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FP31-WE-02 Three Tunisian families with abetalipoproteinemia: identification of two novel mutations

✍ Scribed by M. Ben Hamed; G. El Euch Fayache; M. Feki; F. Hentati; R. Amouri


Book ID
119467778
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
45 KB
Volume
285
Category
Article
ISSN
0022-510X

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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