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Article

[Identification of novel compound heterozygous mutations in the ANTXR2 gene in a Chinese patient with juvenile hyaline fibromatosis].

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

Zhang Yongling, Li Ru, Li Yan, Liao Can

Abstract excerpt

OBJECTIVE: To identify pathogenic mutations of ANTXR2 gene in a patient with juvenile hyaline fibromatosis. METHODS: Genomic DNA was extracted from peripheral venous blood sample from the patient. All coding exons (exons 1-17) and splicing sites of the ANTXR2 gene were amplified with PCR. Potential mutations were detected with direct sequencing of the PCR products. 100 unrelated healthy subjects were used as the...

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Identifiers

PMID: 29188618
DOI: 10.3760/cma.j.issn.1003-9406.2017.06.018

Genes

ANTXR2

Variants

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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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