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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
Format: Artigo
Jezik:Inglês
Izdano: 2006
Teme:
Online dostop: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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