| 1 | APF, TTR
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| Clinical and genetic analysis of three families with familiar amyloid polyneuropathy.
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| Li YF, Ng H, Sun IU, Leong W.
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| Chin Med Sci J 23(4):230-3.
2008
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| 2 | APF, TTR
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| Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus.
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| Kato-Motozaki Y, Ono K, Shima K, Morinaga A, Machiya T, Nozaki I, Shibata-Hamaguchi A, Furukawa Y, Yanase D, Ishida C, Sakajiri K, Yamada M.
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| J Neurol Sci 270(1-2):133-40. Epub 2008 Apr 14.
2008
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| 3 | APCS, APF, RBP4, TTR
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| Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease.
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| Soares ML, Coelho T, Sousa A, Batalov S, Conceicao I, Sales-Luis ML, Ritchie MD, Williams SM, Nievergelt CM, Schork NJ, Saraiva MJ, Buxbaum JN.
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| Hum Mol Genet 14(4):543-53. Epub 2005 Jan 13. 2005
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| 4 | APF, TTR
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| Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions.
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| Soares M, et al.
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| Hum Genet 104(6):480-5. 1999
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| 5 | APF, TTR
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| A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy.
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| Goebel HH, Seddigh S, Hopf HC, Uemichi T, Benson MD, McKusick VA.
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| Neuromuscul Disord 7(4):229-30. 1997
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| 6 | APF
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| Molecular cloning of seprase: a serine integral membrane protease from human melanoma.
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| Goldstein LA, Ghersi G, Pineiro-Sanchez ML, Salamone M, Yeh Y, Flessate D, Chen WT.
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| Biochim Biophys Acta 1361(1):11-9. 1997
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| 7 | TTR, APF
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| Homozygosity and heterozygosity for the transthyretin Leu64 mutation : clinical, biochemical and molecular findings.
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| Ferlini A, et al.
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| Clin Genet 49 : 10-14. 1996
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| 8 | APF
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| The gene for fibroblast activation protein alpha (FAP), a putative cell surface-bound serine protease expressed in cancer stroma and wound healing, maps to chromosome band 2q23.
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| Mathew S, et al.
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| Genomics 25 : 335-337. 1995
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| 9 | TTR, APF
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| A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.
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| Uemichi T, et al.
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| J Med Genet 32 : 279-281. 1995
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| 10 | APF, TTR
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| A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.
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| Coelho T, et al.
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| J Med Genet 31 : 293-299. 1994
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| 11 | APF, TTR
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| Amyloid polyneuropathy in two German-American families : a new transthyretin variant (Val 107).
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| Uemichi T, et al.
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| J Med Genet 31 : 416-417. 1994
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| 12 | APF, TTR
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| A double-variant transthyretin allele (SER 6, ILE 33) in the Israeli patient SKO with familial amyloidotic polyneuropathy.
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| Jacobson DR, et al.
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| Hum Mutat 3 : 254-260. 1994
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| 13 | APF, FACM, TTR
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| A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.
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| Ferlini A, et al.
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| Hum Mutat 4 : 61-64. 1994
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| 14 | APF, TTR
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| Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
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| Skare J, et al.
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| Clin Genet 45 : 281-284. 1994
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| 15 | APF
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| Molecular cloning of fibroblast activation protein alpha, a member of the serine protease family selectively expressed in stromal fibroblasts of epithelial cancers.
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| Scanlan MJ, et al.
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| Proc Natl Acad Sci U S A 91 : 5657-5661. 1994
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| 16 | APF, TTR
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| A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.
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| Benson MD, et al.
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| J Med Genet 30 : 120-122. 1993
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| 17 | APF, TTR
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| A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.
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| Benson MD, et al.
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| J Med Genet 30 : 117-119. 1993
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| 18 | TTR, APF
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| A basic transthyretin variant (GLU61-LYS) causes familial amyloidotic polyneuropathy : protein and DNA sequencing and PCR-induced mutation restriction analysis.
|
| Shiomi K, et al.
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| Biochem Biophys Res Commun 194 : 1090-1096. 1993
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| 19 | TTR, APF
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| Transthyretin ALA 71 : a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.
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| Almeida MDR, et al.
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| Hum Mutat 2 : 420-421. 1993
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| 20 | TTR, APF
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| Familial amyloidotic polyneuropathy : a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.
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| Jones LA, et al.
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| Clin Genet 41 : 70-73. 1992
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| 21 | APF, TTR
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| Familial amyloidotic polyneuropathy presenting with Carpal Tunnel syndrome and a new transthyretin mutation, asparagine-70.
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| Izumoto S, et al.
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| Neurology 42 : 2094-2102. 1992
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| 22 | APF, TTR
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| Diagnosis of Mayland/German familial amyloidotic polyneuropathy using allele-specific, enzymatically amplified, genomic DNA.
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| Mendell JR, et al.
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| Ann Neurol 27 : 553-557. 1990
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