| 1 | HEXA, TSD
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| Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
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| Haghighi A, Rezazadeh J, Shadmehri AA, Haghighi A, Kornreich R, Desnick RJ.
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| J Hum Genet 56(9):682-4. doi: 10.1038/jhg.2011.78. Epub 2011 Jul 28.
2011
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| 2 | HEXA, TSD
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| Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
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| Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM.
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| Pediatr Res 67(2):217-20.PMID: 19858779 2010
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| 3 | HEXA, TSD
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| Rapid identification of HEXA mutations in Tay-Sachs patients.
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| Giraud C, Dussau J, Azouguene E, Feillet F, Puech JP, Caillaud C.
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| Biochem Biophys Res Commun 392(4):599-602. Epub 2010 Jan 25.PMID: 20100466 2010
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| 4 | HEXA, TSD
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| Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.
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| Levit A, Nutman D, Osher E, Kamhi E, Navon R.
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| Mol Genet Metab 100(2):176-83. Epub 2010 Mar 19.PMID: 20363167 2010
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| 5 | HEXA, TSD
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| Substrate reduction therapy in juvenile GM2 gangliosidosis.
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| Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT.
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| Mol Genet Metab 98(1-2):215-24. Epub 2009 Jun 12.PMID: 19595619 2009
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| 6 | HEXA, TSD
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| Structural consequences of amino acid substitutions causing Tay-Sachs disease.
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| Ohno K, Saito S, Sugawara K, Sakuraba H.
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| Mol Genet Metab 94(4):462-8. Epub 2008 May 19.PMID: 1849018 2008
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| 7 | HEXA, TSD
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| Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
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| Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG.
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| Hum Mutat 26(3):282.PMID: 16088929 2005
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| 8 | HEXA, TSD
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| A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
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| Karpati M, Peleg L, Gazit E, Akstein E, Goldman B.
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| Clin Genet 57(5):398-400. 2000
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| 9 | GM2A, HEXA, HEXB, TSD
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| Biochemical consequences of mutations causing the GM2 gangliosidoses.
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| Mahuran DJ.
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| Biochim Biophys Acta 1455(2-3):105-38. Review 1999
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| 10 | HEXA, TSD
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| Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.
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| Drucker L, et al.
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| Hum Mutat 9 : 260-264. 1997
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| 11 | HEXA, TSD
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| Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
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| Myerowitz R.
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| Hum Mutat 9 : 195-208. 1997
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| 12 | HEXA, TSD
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| Novel mutations and DNA-based screening in Non-Jewish carriers ot Tay-Sachs disease.
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| Akerman BR, Natowicz MR, Kaback MM, Loyer M, Campeau E, Gravel RA.
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| Am J Hum Genet 60(5):1099-106. 1997
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| 13 | HEXA, TSD
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| Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene.
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| Navon R, Khosravi R, Melki J, Drucker L, Fontaine B, Turpin JC, N'Guyen B, Fardeau M, Rondot P, Baumann N.
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| Ann Neurol 41(5):631-8. 1997
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| 14 | HEXA, TSD
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| Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.
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| Strasberg P, Warren I, Skomorowski MA, Feigenbaum A.
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| Hum Mutat 10(1):82-3. 1997
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| 15 | HEXA, TSD
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| A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
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| Fernandes MJ, Hechtman P, Boulay B, Kaplan F.
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| Eur J Hum Genet 5(3):129-36. 1997
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| 16 | HEXA, TSD
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| Tay-Sachs disease and HEXA mutations among Moroccan Jews.
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| Kaufman M, Grinshpun-Cohen J, Karpati M, Peleg L, Goldman B, Akstein E, Adam A, Navon R.
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| Hum Mutat 10(4):295-300. 1997
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| 17 | HEXA, TSD
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| Clinical, enzymatic, and molecular characterization of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
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| Ribeiro MG, et al.
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| J Med Genet 33 : 341-343. 1996
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| 18 | HEXA, TSD
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| Late-onset GM2 gangliosidosis : Ashkenazi Jewish family with an exon 5 mutation (Tyr180-His) in the Hex A alpha-chain gene.
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| De Gasperi R, et al.
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| Neurology 47 : 547-552. 1996
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| 19 | HEXA, TSD
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| Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.
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| Ozkara HA, Akerman BR, Ciliv G, Topcu M, Renda Y, Gravel RA.
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| Hum Mutat 5 : 186-187. 1995
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| 20 | HEXA, TSD
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| The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.
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| Boles DJ, et al.
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| Am J Hum Genet 56 : 716-724. 1995
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| 21 | HEXA, TSD
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| Mutational analyses of Tay-Sachs disease : studies on Tay-Sachs carriers of French Canadian background living in New England.
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| Triggs-Raine B, et al.
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| Am J Hum Genet 56 : 870-879. 1995
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| 22 | HEXA, TSD
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| Tay-Sachs disease : intron 7 splice junction mutation in two Portuguese patients.
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| Ribeiro MG, et al.
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| Biochim Biophys Acta 1270 : 44-51. 1995
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| 23 | HEXA, TSD
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| Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
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| Tomczak J, et al.
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| Hum Mutat 4 : 71-72. 1994
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| 24 | HEXA, TSD
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| The major mutation among Japanese patients with infantile Tay-Sachs disease : A G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.
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| Tanaka A, et al.
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| Biochem Biophys Res Commun 192 : 539-546. 1993
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| 25 | HEXA, TSD
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| Tay-Sachs disease in an Israeli Arab family : try26-stop in the alpha-subunit of hexosaminidase A.
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| Drucker L, et al.
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| Hum Mutat 2 : 415-417. 1993
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| 26 | HEXA, TSD
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| Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
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| Akli S, et al.
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| Hum Mol Genet 2 : 61-67. 1993
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| 27 | HEXA, TSD
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| A null allele frequent in non-Jewish Tay-Sachs patients.
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| Akli S, et al.
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| Hum Genet 90 : 614-620. 1993
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| 28 | HEXA, TSD
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| A glycine250-aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
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| Trop I, et al.
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| Hum Mutat 1 : 35-39. 1992
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| 29 | HEXA, TSD
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| Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
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| Drucker L, et al.
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| Am J Hum Genet 51 : 371-377. 1992
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| 30 | HEXA, TSD
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| Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British isles.
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| Landels EC, et al.
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| J Med Genet 29 : 563-567. 1992
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| 31 | HEXA, TSD
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| The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.
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| McDowell GA, et al.
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| Am J Hum Genet 51 : 1071-1077. 1992
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| 32 | HEXA, TSD
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| A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.
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| Ainsworth PJ, et al.
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| Am J Hum Genet 51 : 802-809. 1992
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| 33 | HEXA, TSD
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| A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers : implications for carrier screening.
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| Triggs-Raine BL, et al.
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| Am J Hum Genet 51 : 793-801. 1992
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| 34 | HEXA, TSD
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| The intron 7 donor splice site transition : a second Tay-Sachs disease mutation in French Canada.
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| Hechtman P, et al.
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| Hum Genet 90 : 402-406. 1992
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| 35 | HEXA, TSD
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| A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated american black GM2-gangliosidosis (Tay-Sachs disease) patients.
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| Mules EH, et al.
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| Am J Hum Genet 48 : 1181-1185. 1991
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| 36 | HEXA, TSD
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| Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
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| Akli S, et al.
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| Genomics 11 : 124-134. 1991
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| 37 | HEXA, TSD
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| Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.
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| Triggs-Raine BL, et al.
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| Am J Hum Genet 49 : 1041-1054. 1991
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| 38 | HEXA, TSD
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| Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.
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| Boustany RM, et al.
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| Ann Neurol 29 : 104-107. 1991
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| 39 | HEXA, TSD
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| Frequency of the Tays-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
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| Landels EC, et al.
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| J Med Genet 28 : 177-180. 1991
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| 40 | HEXA, TSD
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| Tay-Sachs disease in Moroccan Jews : deletion of a phenylalainine in the alpha-subunit of beta-hexosaminidase.
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| Navon R, et al.
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| Am J Hum Genet 48 : 412-419. 1991
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| 41 | HEXA, TSD
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| Ashkenazi-jewish and non-jewish adult Gm2 gangliosidosis patients share a common genetic defect.
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| Navon R, et al.
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| Am J Hum Genet 46 : 817-821. 1990
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| 42 | HEXA, TSD
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| A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).
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| Tanaka A, et al.
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| Am J Hum Genet 47 : 567-574. 1990
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| 43 | HEXA, TSD
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| A G to A mutation at position -1 of a 5'splice site in a late infantile form of Tay-Sachs disease.
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| Akli S, et al.
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| J Biol Chem 265 : 7324-7330. 1990
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| 44 | HEXA, TSD
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| A novel mutation in the gene coding for the alpha subunit of beta-N-acetylhexosaminidase associated with the B1 variant of Tay-Sachs disease.
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| Ainsworth PJ, et al.
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| Am J Hum Genet 47 : A206. 1990
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| 45 | HEXA, TSD
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| Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
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| Paw BH, et al.
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| Am J Hum Genet 47 : 698-705. 1990
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| 46 | HEXA, TSD
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| More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.
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| Hechtman P, et al.
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| Am J Hum Genet 47 : 815-822. 1990
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| 47 | HEXA, TSD
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| A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in ashkenazi jewish patients with Tay-Sachs disease.
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| Ohno K, et al.
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| Biochem Biophys Res Commun 153 : 463-469. 1988
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| 48 | HEXA, TSD
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| Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: Evidence against a single defect within this ethnic group.
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| Myerowitz R.
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| Proc Natl Acad Sci U S A 85 : 3955-3959. 1988
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| 49 | HEXA, TSD
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| Identification of an altered splice site in Ashkenazi Tay-Sachs disease.
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| Arpaia E, et al.
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| Nature 333 : 85-86. 1988
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| 50 | HEXA, TSD
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| A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease.
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| Myerowitz R, et al.
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| J Biol Chem 262 : 15396-15399. 1987
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| 51 | HEXA, HEXB, TSD
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| Tay-Sachs'and Sandhoff's diseases the assignment of genes for hexosaminidase A and B to individual human chromosomes.
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| Gilbert F, et al.
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| Proc Natl Acad Sci U S A 72 : 263-267. 1975
|