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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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主要な著者: Weisschuh, Nicole, Aisenbrey, Sabine, Wissinger, Bernd, Riess, Angelika
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2012
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オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3272051/
https://ncbi.nlm.nih.gov/pubmed/22312185
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