Initiation codon mutation in βB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract

PURPOSE: To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children. METHODS: An autozygosity mapping strategy using high density SNP microarrays and microsatellite markers was employed to...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Meyer, Esther, Rahman, Fatimah, Owens, Jessica, Pasha, Shanaz, Morgan, Neil V., Trembath, Richard C., Stone, Edwin M., Moore, Anthony T., Maher, Eamonn R.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Molecular Vision 2009
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2684559/
https://ncbi.nlm.nih.gov/pubmed/19461930
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