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[Application of NGS-based SNP haplotyping for preimplantation genetic diagnosis for beta-thalassemia and HLA matching].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2019

Yang Yan, Liu Yanqiu, Lu Qing, Chen Jia, Luo Haiyan, Ma Pengpeng

Abstract excerpt

OBJECTIVE: To assess the value of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) for beta-thalassemia coupled with human leukocyte antigen (HLA) matching. METHODS: Three couples were recruited. Couple 1 both carried a β (IVS-2-654) variation and had previously given birth to a son with β thalassemia major. Couple 2 respectively...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31703132
DOI: 10.3760/cma.j.issn.1003-9406.2019.11.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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