Loading...

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31

PURPOSE: To investigate the genetic basis of Marinesco-Sjogren syndrome (MSS) in consanguineous Pakistani families. METHODS: Two consanguineous Pakistani families with congenital cataract and muscular dystrophy were enrolled for this study. Detailed ophthalmic and systemic examination including slit...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Riazuddin, S. Amer, Amiri-Kordestani, Laleh, Kaul, Haiba, Butt, Tariq, Jiao, Xiaodong, Riazuddin, Sheikh, Hejtmancik, J. Fielding
Format: Artigo
Sprog:Inglês
Udgivet: Molecular Vision 2009
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2685889/
https://ncbi.nlm.nih.gov/pubmed/19471582
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!