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Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

The PAX6 gene is involved in ocular morphogenesis and is expressed in the developing central nervous system and numerous ocular tissues during development. PAX6 mutations have been detected in various ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataracts, and...

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Detalhes bibliográficos
Main Authors: Azuma, Noriyuki, Yamaguchi, Yuki, Handa, Hiroshi, Tadokoro, Keiko, Asaka, Atsuko, Kawase, Eriko, Yamada, Masao
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2003
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180317/
https://ncbi.nlm.nih.gov/pubmed/12721955
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