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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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Hlavní autoři: Bandah, Dikla, Rosenmann, Ada, Blumenfeld, Anat, Averbukh, Edward, Banin, Eyal, Sharon, Dror
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2255027/
https://ncbi.nlm.nih.gov/pubmed/18334930
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