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Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

PURPOSE: To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC) in a consanguineous family. METHODS: All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sam...

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Detalles Bibliográficos
Autores principales: Irum, Bushra, Khan, Shahid Y., Ali, Muhammad, Kaul, Haiba, Kabir, Firoz, Rauf, Bushra, Fatima, Fareeha, Nadeem, Raheela, 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096708/
https://www.ncbi.nlm.nih.gov/pubmed/27814360
http://dx.doi.org/10.1371/journal.pone.0162620