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[Analysis of a mistake occurring during prenatal diagnosis of two couples respectively carrying CD41-42 (-TCTT) and CD43(G>T) mutations of the beta hemoglobin gene].

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

Hao Ying, Wu Weiqing, Jiang Niping, Xu Xiaoxin, Yin Shanshan, Jiang Nan, Xu Zhiyong, Cai Jun, Xie Jiansheng

Abstract excerpt

OBJECTIVE: To provide prenatal diagnosis for two couples who respectively carried heterozygous CD41-42 (-TCTT) and CD43 (G>T) mutations of the beta hemoglobin gene. METHODS: The mutations were simultaneously detected with reverse dot blot (two diagnostic kits), multi-color melting curve analysis and sequencing analysis. RESULTS: The fetus of family 1 was shown to be heterozygous for CD43 (G>T) by the three...

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PMID: 28981933
DOI: 10.3760/cma.j.issn.1003-9406.2017.05.014

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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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