Associated Papers
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Tammachote R et al.
Clinical Genetics, 2010
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.
Yang X et al.
Journal of Human Genetics, 2000
[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients].
Narisawa K et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1996
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