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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2020
Sujets:
Data Report
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires