Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

PURPOSE: The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. METHODS: All participating individuals underwent a detailed ophthalmic examination. Each patient’s medical history, particularly of cataracts and o...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Irum, Bushra, Khan, Shahid Y., Ali, Muhammad, Daud, Muhammad, Kabir, Firoz, Rauf, Bushra, Fatima, Fareeha, Iqbal, Hira, Khan, Arif O., Al Obaisi, Saif, Naeem, Muhammad Asif, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Eghrari, Allen O., Riazuddin, S. Amer
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5147899/
https://ncbi.nlm.nih.gov/pubmed/27936067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0167562
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