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A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

โœ Scribed by Claudio Graziano; Angela V. D'Elia; Laura Mazzanti; Filomena Moscano; Simonetta Guidelli Guidi; Emanuela Scarano; Daniela Turchetti; Emilio Franzoni; Giovanni Romeo; Giuseppe Damante; Marco Seri

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
122 KB
Volume
143A
Category
Article
ISSN
1552-4825

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Identification of a novel PAX6 gene muta
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Aniridia is an autosomal dominant panocular disorder, characterized by hypoplasia of the iris. It is caused by mutations in the PAX6 gene. This gene encodes a 422-amino acid transcription factor. This protein includes paired and homeo domains, which bind DNA and a proline-serine and threonine-rich P

Novel de novo nonsense mutation of MECP2
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Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le