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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: The Association for Research in Vision and Ophthalmology 2017
Subjects:
Genetics
Online Access: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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