Article
The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene.
Blood - 1 Dec 1990
Pattinson J K, Millar D S, McVey J H, Grundy C B, Wieland K, Mibashan R S, Martinowitz U, Tan-Un K, Vidaud M, Goossens M
Abstract excerpt
A directed-search strategy for point mutations in the factor VIII gene causing hemophilia A was used to screen eight potentially hypermutable CpG dinucleotides occurring at sites deemed to be of functional importance. Polymerase chain reaction-amplified DNA samples from 793 unrelated individuals with hemophilia A were screened by discriminant oligonucleotide hybridization. Point mutations were identified in 16...
Topics
- Base Sequence
- China
- Codon
- DNA
- Europe
- Factor VIII
- Hemophilia A
- Humans
- India
- Israel
- Molecular Sequence Data
- Mutation