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

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

Abstract 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 t...

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Bibliographic Details
Main Authors: Fan Yi, Sheri A. Poskanzer, Candace T. Myers, Jenny Thies, Christopher J. Collins, Remwilyn Dayuha, Phi Duong, Roderick Houwen, Si Houn Hahn
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:JIMD Reports
Subjects:
ATP7B quantification
Benign variant
immuno‐SRM
newborn screening
p.P1379S
Wilson disease
Online Access:https://doi.org/10.1002/jmd2.12127

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