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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: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Molecular Vision
2012
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| 主題: | |
| 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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