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...

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Bibliografiska uppgifter
Huvudupphovsmän: Riazuddin, S. Amer, Amiri-Kordestani, Laleh, Kaul, Haiba, Butt, Tariq, Jiao, Xiaodong, Riazuddin, Sheikh, Hejtmancik, J. Fielding
Materialtyp: Artigo
Språk:Inglês
Publicerad: Molecular Vision 2009
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2685889/
https://ncbi.nlm.nih.gov/pubmed/19471582
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