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PMID: 468997 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia.

The Journal of clinical investigation ·Vol. 64 ·No. 3 ·1979-09-00 ·Pages 866-9

Orkin SH, Alter BP, Altay C

Abstract

In an individual homozygous for G gamma-delta beta-thalassemia, a physical alteration in gamma-globin gene organization was detected by restriction enzyme mapping. The data indicated that the absence of A gamma-globin chains resulted from extension of the DNA deletion from the delta beta-globin gene region into the gamma-globin gene region rather than a functional disturbance of gamma-gene expression.

MeSH Terms
Child Chromosome Deletion DNA/genetics Female Fetal Hemoglobin/genetics Genes Globins/genetics Homozygote Humans Male Thalassemia/blood,genetics
Chemicals
Globins DNA Fetal Hemoglobin
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Orkin S H
Alter B P
Altay C
References (19)
19 references, click to expand
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
DOI
10.1172/JCI109535
Published
1979-09-00
Pages
866-9
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC372193
Subset
IM
External Links
PubMed source DOI: 10.1172/JCI109535 PMC Full Text View journal details
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