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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Data Report
Acesso em linha: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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