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...

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Détails bibliographiques
Publié dans:PLoS One
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2019
Sujets:
Research Article
Accès en ligne: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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