Article
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.
Nucleic acids research - 1 Sept 1994
Giannelli F, Green P M, Sommer S S, Lillicrap D P, Ludwig M, Schwaab R, Reitsma P H, Goossens M, Yoshioka A, Brownlee G G
Abstract excerpt
The fifth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of < 30bp) identified in haemophilia B patients. The 1,142 patient entries are ordered by the nucleotide numb...
Topics
- Databases, Factual
- Factor IX
- Hemophilia B
- Humans
- Mutagenesis, Insertional
- Mutation
- Point Mutation
- Sequence Deletion