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[Gene mutation analyses in Chinese children with multiple carboxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2009

Wang Tong, Ye Jun, Han Lian-shu, Qiu Wen-juan, Zhang Hui-wen, Zhang Ya-fen, Gao Xiao-lan, Wang Yu, Gu Xue-fan

Abstract excerpt

OBJECTIVE: To confirm the diagnosis of multiple carboxylase deficiency (MCD) on the gene level and explore the mutations in Chinese children with MCD. METHODS: Biotinidase (BT) and holocarboxylase synthetase (HLCS) genes were analyzed by PCR and direct sequencing for the 4 BT deficiency patients and 8 HLCS deficiency patients, respectively. The identified mutations in the parents of the patients and 50 normal...

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Identifiers

PMID: 19806568
DOI: 10.3760/cma.j.issn.1003-9406.2009.05.005

Genes

HLCS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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