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Article

[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016

Xie Bobo, Luo Jingsi, Lei Yaqin, Chen Rongyu, Wang Jin, Zhang Shujie, Fan Xin, Li Wang, Chen Shaoke

Abstract excerpt

OBJECTIVE: To explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening. METHODS: PCR and Sanger sequencing were used to identify potential mutations of MCCC1 and MCCC2 genes. SIFT and Polyphen-2 software was used to predict the effect of variant on the protein function and conservation of the variant across various species. Human Splicing Finder...

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Share to Carbon-Carbon Ligases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

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Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 27577216
DOI: 10.3760/cma.j.issn.1003-9406.2016.05.017

Genes

MCCC1
MCC
MCCC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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