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Detection of specific beta-globin mutations in Kurdish Jews with beta-thalassemia.

作者信息

Oppenheim A, Cohen S, Goldfarb A, Katzhendler J, Deutsch J, Rachmilewitz E A

机构信息

Department of Hematology, Hadassah University Hospital, Jerusalem, Israel.

出版信息

Hemoglobin. 1988;12(1):31-8. doi: 10.3109/03630268808996880.

Abstract

Patients with beta-thalassemia, of Kurdish extraction, were screened for the presence of two mutations, in the TATA box and in codon 44, previously discovered in this ethnic isolate. Of the 56 chromosomes analyzed, 13 were found to carry the TATA box mutation and 17 the codon 44 mutation. The result of this work provides a basis for a more efficient prenatal diagnosis program for this community.

摘要

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