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Novel SLC9A6 mutations in two families with Christianson syndrome

✍ Scribed by A Riess; E Rossier; R Krüger; A Dufke; S Beck-Woedl; V Horber; M Alber; D Gläser; O Riess; A Tzschach


Book ID
119839680
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
679 KB
Volume
83
Category
Article
ISSN
0009-9163

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Identification of novel PAX6 mutations i
✍ Martin Neuner-Jehle; Francis Munier; Alexandra Kobetz; Iman Sahly; Yves Uteza; A 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 158 KB 👁 2 views

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