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Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia

BACKGROUND: Haploinsufficiency at the PAX6 locus causes aniridia, a panocular eye condition characterized by iris hypoplasia and a variety of other anterior and posterior eye defects leading to poor vision. This study was performed to identify novel PAX6 mutations that lead to familial aniridia in I...

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Detalles Bibliográficos
Autores principales:	Neethirajan, Guruswamy, Nallathambi, Jeyabalan, Krishnadas, Subbaiah Ramasamy, Vijayalakshmi, Perumalsamy, Shashikanth, Shetty, Collinson, Jon Martin, Sundaresan, Periasamy
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2006
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1544350/ https://www.ncbi.nlm.nih.gov/pubmed/16803629 http://dx.doi.org/10.1186/1471-2415-6-28

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