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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Main Authors: 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
Idioma:Inglês
Publicado em: 2006
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Article
Acesso em linha: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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