1 | BCHE
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| Homozygosity for the K variant of BCHE gene increases the risk for development of neurofibrillary pathology but not amyloid deposits at young ages.
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| Ghebremedhin E, Thal DR, Schultz C, Braak H, Deller T.
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| Acta Neuropathol 114(4):359-63. Epub 2007 Aug 16.PMID: 17701416 2007
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2 | BCHE
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| Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene.
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| Zelinski T, Coghlan G, Mauthe J, Triggs-Raine B.
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| Mol Genet Metab [Epub ahead of print] 2006
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3 | BCHE
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| Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.
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| Souza RL, Mikami LR, Maegawa RO, Chautard-Freire-Maia EA.
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| Mol Genet Metab 84(4):349-53. Epub 2005 Jan 24. 2005
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4 | BCHE
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| Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland.
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| McIlroy SP, Crawford VL, Dynan KB, McGleenon BM, Vahidassr MD, Lawson JT, Passmore AP.
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| J Med Genet 37(3):182-5. 2000
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5 | BCHE
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| Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease.
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| Wiebusch H, et al.
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| Hum Genet 104(2):158-63. 1999
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6 | AD3, PSEN1, BCHE
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| Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease.
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| Tilley L, et al.
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| Eur J Hum Genet 7(6):659-63 1999
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7 | BCHE, BCHEL3
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| Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease.
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| Brindle N, et al.
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| Hum Mol Genet 7 : 933-935. 1998
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8 | BCHE
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| No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease.
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| Singleton AB, et al.
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| Hum Mol Genet 7 : 937-939. 1998
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9 | BCHE
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| Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia.
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| Sakamoto N, et al.
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| Clin Chim Acta 274 : 159-166. 1998
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10 | BCHE
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| Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells.
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| Sudo K, Maekawa M, Akizuki S, Magara T, Ogasawara H, Tanaka T.
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| Biochem Biophys Res Commun 240(2):372-5. 1997
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11 | BCHE
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| Characterization of 12 silent alleles of the human butyrylchoninesterase (BCHE) gene.
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| Primo-Parmo SL, et al.
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| Am J Hum Genet 58 : 52-64. 1996
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12 | BCHE
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| Mutations of human butyrylcholinesterase gene in a family with hypocholinesterasemia.
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| Iida S, et al.
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| Hum Mutat 6 : 349-351. 1995
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13 | BCHE
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| DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.
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| Bartels CF, et al.
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| Am J Hum Genet 50 : 1086-1103. 1992
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14 | BCHE
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| DNA mutations associated with the human butyrylcholinesterase J-variant.
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| Bartels CF, et al.
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| Am J Hum Genet 50 : 1104-1114. 1992
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15 | BCHE
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| Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase.
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| Nogueira CP, et al.
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| Am J Hum Genet 51 : 821-828. 1992
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16 | BCHE
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| The cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26.
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| Allderdice PW, et al.
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| Genomics 11 : 452-454. 1991
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17 | BCHE
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| The butyrylcholinesterase gene (BCHE) at 3q26.2 shows two RFLPs.
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| McAlpine PJ, et al.
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| Nucleic Acids Res 19 : 5088. 1991
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18 | BCHE
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| Refinement of the localization of human butyrylcholinesterase to chromosome 3q26.1-q26.2 using a PCR-derived probe.
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| Gaughan G, et al.
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| Genomics 11 : 455-458. 1991
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19 | BCHE
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| Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, GLY 117 (GGT-GGAG).
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| Nogueira CP, et al.
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| Am J Hum Genet 46 : 934-942. 1990
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20 | BCHE
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| Two polymorphisms in the non-coding regions of the BCHE gene.
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| Bartels CF, et al.
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| Nucleic Acids Res 18 : 6171. 1990
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21 | BCHE
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| Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase.
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| McGuire MC, et al.
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| Proc Natl Acad Sci U S A 86 : 953-957. 1989
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22 | BCHE
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| Expression of 3'-elongated butyrylcholinesterase cDNA sequences, mapped to chromosome 3q26-ter, in glioblastoma and neuroblastoma tumors.
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| Soreq H, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1083 1989
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23 | BCHE, BCHEL1, CHE2
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| Gene mapping on chorionic villi chromosomes by hybridization in situ: localization of cholinesterase cDNA binding sites to chromosomes 3q21, 3q26-ter and 16q21.
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| Zakut H, Zamir R, Sindel L, Soreq H.
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| Hum Reprod 4 : 941-946. 1989
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24 | BCHE, BCHEL1, BCHEL3, CHE2
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| Human cholinesterase genes localized by hybridization to chromosomes 3 and 16.
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| Soreq H, et al.
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| Hum Genet 77 : 325-328. 1987
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25 | BCHE, TF
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| Genetic linkage studies of transferrin, pseudocholinesterase, and chromosome 1 loci.
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| Sparkes RS, et al.
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| Hum Hered 34 : 96-100. 1984
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26 | BCHE
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| Kindred linkage analysis of pseudocholinesterase.
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| Sparkes RS, et al.
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| Cytogenet Cell Genet 25 : 210. 1979
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27 | BCHE
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| Evidence for linkage between the transferrin locus (Tf) and the serum cholinesterase locus (E1) in man.
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| Robson EB, et al.
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| Ann Hum Genet 29 : 325-336. 1966
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