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Article

[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency].

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

Wen Pengqiang, Chen Zhanling, Wang Guobing, Su Zhe, Zhang Xiuwei, Tang Gen, Cui Dong, Liu Xiaohong, Li Chengrong

Abstract excerpt

OBJECTIVE: To investigate the clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency (BKTD). METHODS: Clinical features and laboratory test data were collected. The probands were monozygotic twin brothers. Genomic DNA was isolated from peripheral blood leukocytes obtained from the probands and their family members. Molecular genetic testing of the ACAT1 gene was carried...

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Share to Acetyl-CoA C-Acetyltransferase
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Source

Identifiers

PMID: 27264805
DOI: 10.3760/cma.j.issn.1003-9406.2016.03.002

Genes

ACAT1

Variants

Provenance

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

Source receipt: pubmed, retrieved 5 Sept 2026.

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