Article
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.
Journal of human genetics - 1 Jan 2000
Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Gibson K M, Kure S, Narisawa K, Matsubara Y, Suzuki Y
Abstract excerpt
Holocarboxylase synthetase (HCS) deficiency is a rare autosomal recessive disorder of biotin metabolism. Including three new Japanese patients we diagnosed in this study, ten Japanese families have, so far, been accumulated. In these families, the mutations 237Leu > Pro (seven alleles) and 1067delG (five alleles) were predominant; 508Arg > Trp and 55(Val > Met mutations were identified in three families in the...
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