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Genotype–phenotype correlation of PAX6 gene mutations in aniridia

The objective of this study was to investigate the genotype–phenotype correlation of the PAX6 gene in aniridia. We clinically examined 5 families and 16 sporadic patients with aniridia. We performed chromosomal analysis and PCR analysis of the PAX6 gene using patient genomic DNA. Chromosomal analysi...

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Detalles Bibliográficos
Autores principales:	Yokoi, Tadashi, Nishina, Sachiko, Fukami, Maki, Ogata, Tsutomu, Hosono, Katsuhiro, Hotta, Yoshihiro, Azuma, Noriyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760117/ https://www.ncbi.nlm.nih.gov/pubmed/27081561 http://dx.doi.org/10.1038/hgv.2015.52

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