Novel Single-Base Deletional Mutation in Major Intrinsic Protein (MIP) in Autosomal Dominant Cataract

PURPOSE: To further elucidate the cataract phenotype, and identify the gene and mutation for autosomal dominant cataract (ADC) in an American family of European descent (ADC2) by sequencing the major intrinsic protein gene (MIP), a candidate based on linkage to chromosome 12q13. DESIGN: Observationa...

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Autores principales: Geyer, David D., Spence, M. Anne, Johannes, Meriam, Flodman, Pamela, Clancy, Kevin P., Berry, Rebecca, Sparkes, Robert S., Jonsen, Matthew D., Isenberg, Sherwin J., Bateman, J. Bronwyn
Formato: Artigo
Lenguaje:Inglês
Publicado: 2006
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1463993/
https://ncbi.nlm.nih.gov/pubmed/16564824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajo.2005.11.008
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