Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients

TY - JOUR

T1 - Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients

AU - Bagnall, R D

AU - Waseem, N H

AU - Green, P M

AU - Colvin, B

AU - Lee, C

AU - Giannelli, F

PY - 1999

Y1 - 1999

N2 - We have constructed a confidential U.K, database of haemophilia A mutations and pedigrees by characterizing the gene defect of one index patient in each U.K, family. Mutations were identified by screening all coding regions of the factor VIII (FVIII) mRNA, using solid-phase fluorescent chemical cleavage of mismatch and examining additional non-coding regions of the gene. Here we report two haemophilia A patients (UK 114 FVIII:C 2% and UK 243 FVIII:C

AB - We have constructed a confidential U.K, database of haemophilia A mutations and pedigrees by characterizing the gene defect of one index patient in each U.K, family. Mutations were identified by screening all coding regions of the factor VIII (FVIII) mRNA, using solid-phase fluorescent chemical cleavage of mismatch and examining additional non-coding regions of the gene. Here we report two haemophilia A patients (UK 114 FVIII:C 2% and UK 243 FVIII:C

UR - http://www.scopus.com/inward/record.url?scp=0033378313&partnerID=8YFLogxK

U2 - 10.1046/j.1365-2141.1999.01767.x

DO - 10.1046/j.1365-2141.1999.01767.x

M3 - Article

SN - 1365-2141

VL - 107

SP - 766

EP - 771

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 4

ER -