Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

PURPOSE: To identify the genetic origins of autosomal recessive congenital cataracts (arCC) in the Pakistani population. METHODS: Based on the hypothesis that most arCC patients in consanguineous families in the Punjab areas of Pakistan should be homozygous for causative mutations, affected individu...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Chen, Jianjun, Wang, Qiwei, Cabrera, Patricia E., Zhong, Zilin, Sun, Wenmin, Jiao, Xiaodong, Chen, Yabin, Govindarajan, Gowthaman, Naeem, Muhammad Asif, Khan, Shaheen N., Ali, Muhammad Hassaan, Assir, Muhammad Zaman, Rahman, Fawad Ur, Qazi, Zaheeruddin A., Riazuddin, Sheikh, Akram, Javed, Riazuddin, S. Amer, Hejtmancik, J. Fielding
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2017
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5397132/
https://ncbi.nlm.nih.gov/pubmed/28418495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.17-21469
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