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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:JIMD Rep
Glavni autori: Yi, Fan, Poskanzer, Sheri A., Myers, Candace T., Thies, Jenny, Collins, Christopher J., Dayuha, Remwilyn, Duong, Phi, Houwen, Roderick, Hahn, Si Houn
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons, Inc. 2020
Teme:
Case Reports
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items