Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia

PURPOSE: Aniridia is a rare panocular disorder characterized by iris hypoplasia and other associated eye anomalies. Heterozygous null mutations in paired box gene 6 (PAX6) are the major cause of the classic aniridia phenotype. This study aims to detect the mutational spectrum of PAX6 and associated...

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Detalles Bibliográficos
Autores principales: Dubey, Sushil Kumar, Mahalaxmi, Nagasubramanian, Vijayalakshmi, Perumalsamy, Sundaresan, Periasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316699/
https://www.ncbi.nlm.nih.gov/pubmed/25678763

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