Article
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.
Human mutation - 1 Mar 2012
Blandin Gaelle, Beroud Christophe, Labelle Veronique, Nguyen Karine, Wein Nicolas, Hamroun Dalil, Williams Brad, Monnier Nilah, Rufibach Laura E, Urtizberea Jon Andoni, Cau Pierre, Bartoli Marc, Lévy Nicolas, Krahn Martin
Abstract excerpt
Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare autosomal recessive inherited neuromuscular disorders. As a step towards a better understanding of the DYSF mutational spectrum, and towards possible inclusion of patients in future therapeutic clinical trials, we set up...
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