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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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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 |
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