A genetic study of Wilson's disease: evidence for heterogeneity.
about
Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.H714Q mutation in Wilson disease is associated with late, neurological presentation.High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.Wilson's disease in Scotland.Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees.Eight closely linked loci place the Wilson disease locus within 13q14-q21.Wilson's disease: a comprehensive review of the molecular mechanisms.Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellitesHaplotype studies in Wilson diseaseReduced oxidase activity in the caeruloplasmin of two families with Wilson's diseaseCeruloplasmin and superoxide dismutase (SOD1) in heterozygotes for Wilson disease: A case control study.Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.Alagille syndrome and Wilson disease in siblings: a diagnostic conundrumEvaluation of segregation ratio in Wilson's disease.Genes of the copper pathway.
P2860
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P2860
A genetic study of Wilson's disease: evidence for heterogeneity.
description
1972 nî lūn-bûn
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1972年の論文
@ja
1972年論文
@yue
1972年論文
@zh-hant
1972年論文
@zh-hk
1972年論文
@zh-mo
1972年論文
@zh-tw
1972年论文
@wuu
1972年论文
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1972年论文
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name
A genetic study of Wilson's disease: evidence for heterogeneity.
@ast
A genetic study of Wilson's disease: evidence for heterogeneity.
@en
type
label
A genetic study of Wilson's disease: evidence for heterogeneity.
@ast
A genetic study of Wilson's disease: evidence for heterogeneity.
@en
prefLabel
A genetic study of Wilson's disease: evidence for heterogeneity.
@ast
A genetic study of Wilson's disease: evidence for heterogeneity.
@en
P2093
P2860
P1476
A genetic study of Wilson's disease: evidence for heterogeneity.
@en
P2093
P2860
P304
P407
P433
P577
1972-11-01T00:00:00Z