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[Gene Diagnosis and Phenotypic Analysis of β-Thalassemia Caused from a Rare Synonymous Mutation CD29 (C>T)].

Zhongguo shi yan xue ye xue za zhi - 1 Apr 2020

Qin Dan-Qing, DU Li, Ding Hong-Ke, Wang Ji-Cheng, Yuan Teng-Long, Yao Cui-Ze, Lan Fei-Fei

Abstract excerpt

OBJECTIVE: To investigate the gene diagnosis and phenotypes analysis for a couple with β-thalassemia suspected from of blood routine test and hemoglobin electrophoresis, as well as the prenatal gene diagnosis of the fetus. METHODS: The gene mutation of β-globin in the samples of peripheral blood of pregnant woman and her husband, as well as amniotic fluid of pregnant woman were analyzied and identified by using...

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PMID: 32319399
DOI: 10.19746/j.cnki.issn.1009-2137.2020.02.037

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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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