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[Phenotyping and genotyping studies in a family with the compound heterozygosity for a deletional delta beta-thalassemia and a beta-thalassemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2001

Li Z, Mo Q, Zhong X, Liu L, Xu X

Abstract excerpt

OBJECTIVE: To investigate the relationship between genotype and phenotype of a deletional delta beta-thalassemia and explore an approach to rapid prenatal diagnosis for compound heterozygotes of this defect and a beta-thalassemia. METHODS: A total of ten members in a Chinese family who had a 5-year-old propositus with thalassemia major and requested prenatal diagnosis for the second pregnancy were investigated....

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PMID: 11484175

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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