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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Detalles Bibliográficos
Autores principales: Yi, Fan, Poskanzer, Sheri A., Myers, Candace T., Thies, Jenny, Collins, Christopher J., Dayuha, Remwilyn, Duong, Phi, Houwen, Roderick, Hahn, Si Houn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358663/
https://www.ncbi.nlm.nih.gov/pubmed/32685348
http://dx.doi.org/10.1002/jmd2.12127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358663/
https://www.ncbi.nlm.nih.gov/pubmed/32685348
http://dx.doi.org/10.1002/jmd2.12127

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