Article
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.
Human mutation - 1 Jan 1997
Wulff K, Parrish J E, Herrmann F H, Wehnert M
Abstract excerpt
Mutations in the emerin gene, also referred to as the STA- or EMD-gene, have been found to be the cause of X-linked Emery-Dreifuss muscular dystrophy (EMD). For the present study an optimized set of primers was designed to amplify and sequence each of the six emerin gene exons, including the intron/exon boundaries. All emerin gene exons of 30 unrelated EMD patients have been screened by heteroduplex analysis....
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