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Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families

✍ Scribed by Traverso, Monica; Yuregir, Ozge Ozalp; Mimouni-Bloch, Aviva; Rossi, Andrea; Aslan, Huseyin; Gazzerro, Elisabetta; Baldassari, Sımona; Fruscione, Floriana; Minetti, Carlo; Zara, Federico; Biancheri, Roberta


Book ID
125471809
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
607 KB
Volume
17
Category
Article
ISSN
1090-3798

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We report two novel PAX6 mutations in aniridia patients of two Swiss pedigrees (We, Sc) which give rise to different phenotypes. An SSCP analysis of the PAX6 14 exons reveals electrophoretic mobility shifts exclusively in exons 5 and 12 of aniridia patients. As determined by bidirectional sequencing