Article
[Diagnosis and clinical phenotype analysis of a case with large fragment homozygous deletion of rare β gene cluster].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2020
Zhong Zeyan, Chen Jianhong, Chen Dina, He Hailin, Zhong Guoxing, Guan Zhiyang, Yang Kunxiang
Abstract excerpt
OBJECTIVE: To report on a case with homozygous deletion of large β gene cluster and its clinical characteristics. METHODS: A total of 71 001 peripheral blood samples were subjected to capillary electrophoresis and conventional testing for common thalassemia mutations. The genotypes of suspected β gene cluster deletions were analyzed by Gap-PCR and multiplex ligation-dependent probe amplification (MLPA). Their...
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