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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Dades bibliogràfiques
Publicat a:Invest Ophthalmol Vis Sci
Autors principals: 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
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2017
Matèries:
Genetics
Accés en línia: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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