相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutational analysis of ATP7B gene in Egyptian children with Wilson disease:: 12 novel mutations
Tawhida Y. Abdelghaffar et al.
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Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
P. de Bie et al.
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Analysis of the T1288R mutation of the Wilson diseaseATP7B gene in four generations of a family: Possible genotype-phenotype correlation with hepatic onset
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ATP7B mediates vesicular sequestration of copper: Insight into biliary copper excretion
MA Cater et al.
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Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
G Gromadzka et al.
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NH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells
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The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease:: results of a meta-analysis
JM Stapelbroek et al.
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Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines
D Huster et al.
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Copper-dependent trafficking of Wilson disease mutant ATP7B proteins
JR Forbes et al.
HUMAN MOLECULAR GENETICS (2000)
A new variant deletion of a copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure
T Okada et al.
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