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[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2017

Lin Yiming, Yu Ke, Li Lufeng, Zheng Zhenzhu, Lin Weihua, Fu Qingliu

Abstract excerpt

OBJECTIVE: To detect potential mutations in six patients with citrullinemia. METHODS: Genomic DNA was extracted from peripheral blood samples from the patients. Mutations of the ASS1, ASL and SLC25A13 genes were screened using microarray genotyping combined with direct sequencing. RESULTS: One patient was diagnosed with argininosuccinate lyase deficiency, and has carried a homozygous c.1311T>G (p.Y437*) mutation...

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Source

Identifiers

PMID: 28981931
DOI: 10.3760/cma.j.issn.1003-9406.2017.05.012

Genes

ASL
ASS1

Variants

Provenance

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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