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Three novel PAX6 mutations in patients with aniridia

Aims: To describe mutations in the PAX6 gene in five patients with aniridia from three unrelated families. Methods: The PAX6 gene was analysed using single stranded conformational polymorphism analysis and direct sequencing. Results: In one family, three individuals from two generations had aniridia...

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Detaylı Bibliyografya
Asıl Yazarlar: Zumkeller, W, Orth, U, Gal, A
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: British Medical Journal Publishing Group 2003
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1187315/
https://ncbi.nlm.nih.gov/pubmed/12782766
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