Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

OBJECTIVE: To identify disease-causing mutations in two consanguineous Pakistani families with fundus albipunctatus. METHODS: Affected individuals in both families underwent a thorough clinical examination including funduscopy and electroretinography. Blood samples were collected from all participat...

Full description

Saved in:
Bibliographic Details
Main Authors: Naz, Shagufta, Ali, Shahbaz, Riazuddin, S Amer, Farooq, Tahir, Butt, Nadeem H, Zafar, Ahmad U, Khan, Shaheen N, Husnain, Tayyab, MacDonald, Ian M, Sieving, Paul A, Hejtmancik, J Fielding, Riazuddin, Sheikh
Format: Artigo
Language:Inglês
Published: 2011
Subjects:
Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3459316/
https://ncbi.nlm.nih.gov/pubmed/21447491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2010.189076
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items