Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract

PURPOSE: To identify the genetic defect in a four-generation Croatian family presenting with autosomal dominant cataract. METHODS: Genome-wide linkage analysis with 250K single nucleotide polymorphism (SNP) arrays was performed using DNA from one unaffected and seven affected individuals. Mutation s...

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Detalles Bibliográficos
Autores principales: Weisschuh, Nicole, Aisenbrey, Sabine, Wissinger, Bernd, Riess, Angelika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272051/
https://www.ncbi.nlm.nih.gov/pubmed/22312185

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272051/
https://www.ncbi.nlm.nih.gov/pubmed/22312185

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