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Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

PURPOSE: To investigate the genetic basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous Pakistani family. METHODS: All participating members of family, PKCC074 underwent an ophthalmic examination. Slit-lamp photographs were ascertained for affected individuals that hav...

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Библиографические подробности
Опубликовано в: :PLoS One
Главные авторы: Jiao, Xiaodong, Khan, Shahid Y., Kaul, Haiba, Butt, Tariq, Naeem, Muhammad Asif, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2019
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6901218/
https://ncbi.nlm.nih.gov/pubmed/31815953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0225010
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