Dymeclin, the gene underlying Dyggve-Mel
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Celine Denais; Carolyn L. Dent; Laura Southgate; Jacqueline Hoyle; Dimitra Dafou
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Article
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2011
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John Wiley and Sons
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English
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Dyggve-Melchior-Clausen syndrome (DMC), a severe autosomal recessive skeletal disorder with mental retardation, is caused by mutation of the gene encoding Dymeclin (DYM). Employing patient fibroblasts with mutations characterized at the genomic and, for the first time, transcript level, we identifie