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Article

Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China.

Journal of clinical pathology - 1 Aug 2020

Zhao Jianghong, Li Jia, Lai Qiaohong, Yu Yanping

Abstract excerpt

AIMS: Thalassaemia is one of the most common genetics disorders in the world, especially in southern China. The aim of the present study was to investigate the feasibility of combining the gap-PCR and next-generation sequencing (NGS) for thalassaemia carrier screening in the Chinese population. METHODS: Blood samples were obtained from 944 prepregnancy couples; thalassaemia carrier screening was performed by...

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alpha-Globins
alpha-Thalassemia
beta-Globins
beta-Thalassemia
Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Sensitivity and Specificity

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Identifiers

PMID: 31980563
DOI: 10.1136/jclinpath-2019-206339
PMCID: PMC7398480

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