Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis and Sanger sequencing resu...

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書誌詳細
出版年:Hum Genome Var
主要な著者: Nadeem, Raheela, Kabir, Firoz, Li, Jiali, Gradstein, Libe, Jiao, Xiaodong, Rauf, Bushra, Naeem, Muhammad Asif, Assir, Muhammad Zaman, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2020
主題:
Data Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7217820/
https://ncbi.nlm.nih.gov/pubmed/32411380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-0100-8
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