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...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley & Sons, Inc. 2020
Ábhair:
Case Reports
Rochtain Ar Líne: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
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla