Mutations in FYCO1 identified in families with congenital cataracts

PURPOSE: This study was designed to identify the pathogenic variants in three consanguineous families with congenital cataracts segregating as a recessive trait. METHODS: Consanguineous families with multiple individuals manifesting congenital cataracts were ascertained. All participating members un...

詳細記述

保存先:
書誌詳細
出版年:Mol Vis
主要な著者: Iqbal, Hira, Khan, Shahid Y., Zhou, Lin, Irum, Bushra, Ali, Muhammad, Ahmed, Mariya R., Shahzad, Mohsin, Ali, Muhammad Hassaan, Naeem, Muhammad Asif, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2020
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7190580/
https://ncbi.nlm.nih.gov/pubmed/32355443
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