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

doi:10.1007/BF00291718

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	86-88
Number of pages	3
Journal	Human Genetics
Volume	79
Issue number	1
DOIs	https://doi.org/10.1007/BF00291718
Publication status	Published - May 1988

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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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.",

author = "B. Bardoni and M. Sampietro and M. Romano and M. Crapanzano and Mannucci, {P. M.} and G. Camerino",

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AU - Mannucci, P. M.

AU - Camerino, G.

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