Article
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.
Nucleic acids research - 25 Sept 1991
Tuddenham E G, Cooper D N, Gitschier J, Higuchi M, Hoyer L W, Yoshioka A, Peake I R, Schwaab R, Olek K, Kazazian H H
Abstract excerpt
Mutations at the factor VIII gene locus causing Haemophilia A have now been identified in many patients from many ethnic groups. Earlier studies used biased methods which detected repetitive mutations at a few CG dinucleotides. More recently rapid gene scanning methods have uncovered an extreme diversity of mutations. Over 80 different point mutations, 6 insertions, 7 small deletions, and 60 large deletions have...
Topics
- Base Sequence
- Chromosome Deletion
- Databases, Factual
- Factor VIII
- Hemophilia A
- Humans
- Mutation
- Polymorphism, Genetic
- RNA Splicing
- RNA, Messenger