Associated Papers
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM2_ESM.xlsx › Table_S2
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency].
Li D et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
Mutations in the holocarboxylase synthetase gene HLCS.
Suzuki Y et al.
Human Mutation, 2005
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
Yang X et al.
Human Genetics, 2001
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