p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the ATP7B gene and results in toxic accumulation of copper in various organs. We previously reported a family with three consecutive generations affected by WD that carries the varia...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Yi, Fan, Poskanzer, Sheri A., Myers, Candace T., Thies, Jenny, Collins, Christopher J., Dayuha, Remwilyn, Duong, Phi, Houwen, Roderick, Hahn, Si Houn
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7358663/
https://ncbi.nlm.nih.gov/pubmed/32685348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12127
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