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

British Journal of Haematology

Volumn 107, Issue 4, 1999, Pages 766-771

  Bagnall, Richard D ^a   Waseem, Naushin H ^a   Green, Peter M ^a   Colvin, Brian ^b   Lee, Christine ^c   Giannelli, Francesco ^a,d  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ROYAL LONDON HOSPITAL   (United Kingdom)

^c ROYAL FREE HOSPITAL   (United Kingdom)

^d GUY S HOSPITAL   (United Kingdom)

Author keywords

Cryptic exon; Haemophilia A; Haplotype analysis; mRNA analysis; Mutation detection

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 8; MESSENGER RNA;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; EXON; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HEMOPHILIA A; HUMAN; INTRON; PEDIGREE; PRIORITY JOURNAL; RNA ANALYSIS; RNA SPLICING;

EID: 0033378313     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1999.01767.x     Document Type: Article

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