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Article

[A novel double heterozygote of HBB c.[219T>A;220G>T]: gene diagnosis and pedigree analysis].

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

Lv Jiezhong, Luo Zhaofan, Fang Jianpei, Du Tao, Xue Hongman, Liu Yong, Zhang Jianping

Abstract excerpt

OBJECTIVE: To identify a novel hemoglobinopathy applied by direct sequencing and clone sequencing. METHODS: EDTA anticoagulated blood of proband and his parents were analyzed by hematology analyzers and Capillarys hemoglobin electrophoresis (CE). Then thalassemia genetypes were screened by gap-PCR and reverse dot blot (RDB). Proband was suspected with abnormal hemoglobin combine alpha beta compound thalassemia....

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Identifiers

PMID: 28777854
DOI: 10.3760/cma.j.issn.1003-9406.2017.04.015

Genes

HBB

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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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