Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
about
Modifying factors and phenotypic diversity in Wilson's diseaseThe effect of zinc and D-penicillamine in a stable human hepatoma ATP7B knockout cell lineGeographic distribution of ATP7B mutations in Wilson disease.Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis.The genetics of Wilson disease.Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.Advances in Treatment of Wilson Disease.
P2860
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P2860
Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
Wilson disease mutation patter ...... ication of 14 novel mutations.
@en
Wilson disease mutation patter ...... ication of 14 novel mutations.
@nl
type
label
Wilson disease mutation patter ...... ication of 14 novel mutations.
@en
Wilson disease mutation patter ...... ication of 14 novel mutations.
@nl
prefLabel
Wilson disease mutation patter ...... ication of 14 novel mutations.
@en
Wilson disease mutation patter ...... ication of 14 novel mutations.
@nl
P2093
P2860
P50
P356
P1476
Wilson disease mutation patter ...... ication of 14 novel mutations.
@en
P2093
Gursimran Chandhok
Mohit Bhatt
Saloni Parekh
Theodor Todorov
P2860
P304
P356
10.1111/AHG.12024
P407
P577
2013-04-02T00:00:00Z