Literature DB >> 3384696

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

A Oppenheim1, S Cohen, A Goldfarb, J Katzhendler, J Deutsch, E A Rachmilewitz.   

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.

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Year:  1988        PMID: 3384696     DOI: 10.3109/03630268808996880

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  1 in total

1.  Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.

Authors:  D Rund; T Cohen; D Filon; C E Dowling; T C Warren; I Barak; E Rachmilewitz; H H Kazazian; A Oppenheim
Journal:  Proc Natl Acad Sci U S A       Date:  1991-01-01       Impact factor: 11.205

  1 in total

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