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Article

[Identification of a novel mutation of AGL gene in two siblings affected with glycogen storage disease type IIIa].

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

Guo Li, Lin Weixia, Mao Man, Song Yuanzong

Abstract excerpt

OBJECTIVE: To detect potential mutation of the AGL gene in two siblings affected with glycogen storage disease type IIIa. METHODS: Clinical data of the two siblings was collected and analyzed. Genomic DNA was extracted from peripheral venous blood samples from the patients and their parents. All exons and their flanking sequences of the AGL gene were subjected to PCR amplification and Sanger sequencing. Suspected...

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Identifiers

PMID: 28777846
DOI: 10.3760/cma.j.issn.1003-9406.2017.04.007

Genes

AGL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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