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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Bibliografiska uppgifter
I publikationen:Hum Genome Var
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2020
Ämnen:
Data Report
Länkar: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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