Glanzmann thrombasthenia in two Iraqi-Jewish siblings is caused by a novel splice junction mutation in the glycoprotein IIb

R. Yatuv, N. Rosenberg, R. Dardik, B. Brenner, U. Seligsohn

Research output: Contribution to journalArticlepeer-review

Abstract

An A→G transition in the acceptor splice site at the intron 19/exon 20 junction of the glycoprotein IIb gene was defined as a novel mutation causing Glanzmann thrombasthenia in two Iraqi-Jewish siblings. This mutant DNA was transcribed into four distinct species of mRNA, one of which resulted in a premature termination codon and the other three predicting deletions of 50, 61 or 72 amino acids, respectively.

Original languageEnglish
Pages (from-to)285-288
Number of pages4
JournalBlood Coagulation and Fibrinolysis
Volume9
Issue number3
DOIs
StatePublished - 1998
Externally publishedYes

Keywords

  • Glanzmann thrombasthenia
  • Glycoprotein IIb
  • Iraqi-Jews

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