Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD families from a south Indian population. Thirty-six d...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: Singh, Nivedita, Kallollimath, Pradeep, Shah, Mohd Hussain, Kapoor, Saketh, Bhat, Vishwanath Kumble, Viswanathan, Lakshminarayanapuram Gopal, Nagappa, Madhu, Bindu, Parayil S., Taly, Arun B., Sinha, Sanjib, Kumar, Arun
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2019
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6502322/
https://ncbi.nlm.nih.gov/pubmed/31059521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0215779
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