A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia

PURPOSE: To report a novel de novo PAX6 mutation in an Ashkenazi-Jewish family with autosomal dominant aniridia. METHODS: A mother and her daughter of Ashkenazi-Jewish origin were diagnosed with aniridia. Blood samples were drawn from family members and DNA was analyzed by direct sequencing and micr...

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Detalles Bibliográficos
Autores principales: Bandah, Dikla, Rosenmann, Ada, Blumenfeld, Anat, Averbukh, Edward, Banin, Eyal, Sharon, Dror
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2255027/
https://www.ncbi.nlm.nih.gov/pubmed/18334930

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2255027/
https://www.ncbi.nlm.nih.gov/pubmed/18334930

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