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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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Detalles Bibliográficos
Autores principales: Park, Shin Hae, Kim, Man Soo, Chae, Hyojin, Kim, Yonggoo, Kim, Myungshin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291524/
https://www.ncbi.nlm.nih.gov/pubmed/22393275