Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor

B. Bardoni, M. Sampietro, M. Romano, M. Crapanzano, P. M. Mannucci, G. Camerino

Research output: Contribution to journalArticlepeer-review

Abstract

Genomic DNA from 49 Italian patients affected with severe haemophilia A was analysed by Southern blotting technique using a cDNA probe corresponding to exons 14-26 of coagulation factor VIII. No TaqI site mutation was observed in this sample. A partial deletion, eliminating exons 15-18 and spanning about 13 kb, was identified and characterized in one patient with anti-factor VIII antibodies.

Original languageEnglish
Pages (from-to)86-88
Number of pages3
JournalHuman Genetics
Volume79
Issue number1
DOIs
Publication statusPublished - May 1988

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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