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Article

Prenatal diagnosis of unusual hemoglobinopathies.

American journal of medical genetics - 1 Mar 1994

Kim J H, Lebo R V, Cai S P, Su X, Chung J H, Mentzer W C, Golbus M S

Abstract excerpt

While analyzing 280 hemoglobinopathy kindreds with prescribed molecular tests, 3 unusual mutations were observed that required additional characterization. In the first case, the hypervariable region flanking the alpha-globin genes generated an intermediate length 8.2 kb psi zeta-globin gene fragment on a Southeast Asian chromosome with two deleted alpha-globin genes. Rehybridization of the Southern blot with...

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PMID: 8160747
DOI: 10.1002/ajmg.1320500104

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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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