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[Gene variant analysis of a patient with multiple carboxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2020

Xing Xuesha, Liu Shuang, Luo Ping, Li Fang, Wu Yuhong, Wang Shusen, Ma Hongwei, Luo Yang

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a patient featuring multiple carboxylase deficiency (MCD). METHODS: PCR and Sanger sequencing were used to detect variant in the coding region of BT and HLCS genes in the patient. Suspected variants were verified in her parents and 80 unrelated healthy controls by a PCR-restriction fragment length polymorphism (PCR-RFLP) method. RESULTS: The patient was found to carry...

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PMID: 32219826
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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