Article
Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
Neuromuscular disorders : NMD - 1 Jan 2007
De Luna N, Freixas A, Gallano P, Caselles L, Rojas-García R, Paradas C, Nogales G, Dominguez-Perles R, Gonzalez-Quereda L, Vílchez J J, Márquez C, Bautista J, Guerrero A, Salazar J A, Pou A, Illa I, Gallardo E
Abstract excerpt
Dysferlin protein is expressed in peripheral blood monocytes. The genomic analysis of the DYSF gene has proved to be time consuming because it has 55 exons. We designed a mutational screening strategy based on cDNA from monocytes to find out whether the mutational analysis could be performed in mRNA from a source less invasive than the muscle biopsy. We studied 34 patients from 23 families diagnosed with...
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