Article
Mutations in the holocarboxylase synthetase gene HLCS.
Human mutation - 1 Oct 2005
Suzuki Yoichi, Yang Xue, Aoki Yoko, Kure Shigeo, Matsubara Yoichi
Abstract excerpt
Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder. HLCS is an enzyme that catalyzes biotin incorporation into carboxylases and histones. Since the first report of the cDNA sequence, 30 mutations in the HLCS gene have been reported. Mutations occur throughout the entire coding region except exons 6 and 10. The types of mutations are one single amino acid deletion, five single...
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