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Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine

โœ Scribed by R. A. Roesel; J. E. Carroll; W. B. Rizzo; T. van der Zalm; D. A. Hahn


Publisher
Springer
Year
1991
Tongue
English
Weight
607 KB
Volume
14
Category
Article
ISSN
0141-8955

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Dymeclin, the gene underlying Dyggve-Mel
โœ Celine Denais; Carolyn L. Dent; Laura Southgate; Jacqueline Hoyle; Dimitra Dafou ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 522 KB

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