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Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

✍ Scribed by Mireille Cossée; Alexandra Dürr; Michèle Schmitt; Niklas Dahl; Paul Trouillas; Patricia Allinson; Markus Kostrzewa; Annie Nivelon-Chevallier; Karl-Henrik Gustavson; Alfried Kohlschütter; Ulrich Müller; Jean-Louis Mandel; Alexis Brice; Michel Koenig; Francesca Cavalcanti; Angela Tammaro; Giuseppe De Michele; Alessandro Filla; Sergio Cocozza; Malgorzata Labuda; Laura Montermini; Josée Poirier; Massimo Pandolfo

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 152 KB
Volume: 45
Category: Article
ISSN: 0364-5134
DOI: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u

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Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies

✍ Bartolo, Claire; Mendell, Jerry R.; Prior, Thomas W. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views

Approximately 95% of all Friedreich's ataxia (FA) patients are homozygous for a large GAA triplet-repeat expansion in the first intron of the Friedreich's ataxia gene (FRDA). The remaining cases are expected to be compound heterozygous with a GAA expansion on one allele and a point mutation on the o