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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2017
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397132/ https://www.ncbi.nlm.nih.gov/pubmed/28418495 http://dx.doi.org/10.1167/iovs.17-21469

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