Article
Molecular defects in Moroccan patients with ataxia-telangiectasia.
Neuromolecular medicine - 1 Jun 2013
Jeddane L, Ailal F, Dubois-d'Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y, El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha A A, Barakat A, Stoppa-Lyonnet D, Bellaoui H
Abstract excerpt
Ataxia-telangiectasia (AT) is a rare autosomal recessive disease, affecting neurologic and immune system. Numerous mutations are described in the ATM gene in several populations. However, in Morocco, few data are available concerning this condition. Our main goal is to determine clinical, immunological, and molecular presentation of Moroccan patients with AT. We screened 27 patients, out of 22 unrelated families,...
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