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Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: Identification of four novel mutations

PURPOSE: To analyze the paired box gene 6 (PAX6) in Korean patients with congenital aniridia. METHODS: Genomic DNA was isolated from peripheral blood leukocytes of 22 aniridia patients in 18 unrelated families. Polymerase chain reaction was performed for all 14 exons of PAX6 followed by bidirectiona...

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主要な著者: Park, Shin Hae, Kim, Man Soo, Chae, Hyojin, Kim, Yonggoo, Kim, Myungshin
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/PMC3291524/
https://ncbi.nlm.nih.gov/pubmed/22393275
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