Characterization of a splicing mutation in the factor VIII gene at the RNA level.

doi:10.1007/BF00225086

Back to search

Article

Characterization of a splicing mutation in the factor VIII gene at the RNA level.

Human genetics - 1 Jan 1995

David D, Tavares A, Lavinha J

Abstract excerpt

Haemophilia A is an X-linked bleeding disorder caused by mutations in the coagulation factor VIII (FVIII) gene. The identification and characterization of naturally occurring disease-producing mutations allows the recognition of new mechanisms of pathogenesis in haemophilia A. Analysis of the ill...

Topics

Base Sequence
DNA
DNA Mutational Analysis
Factor VIII
Hemophilia A
Humans
Molecular Sequence Data
Mutation
RNA Splicing
RNA, Messenger

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.