Haemophilia B: database of point mutations and short additions and deletions
- 1 January 1990
- journal article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 18 (14) , 4053-4059
- https://doi.org/10.1093/nar/18.14.4053
Abstract
No abstract availableThis publication has 40 references indexed in Scilit:
- Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia BNature, 1990
- "Founder" effect in different families with haemophilia B mutationThe Lancet, 1990
- DIRECT CARRIER TESTING IN 14 FAMILIES WITH HAEMOPHILIA BThe Lancet, 1989
- Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145British Journal of Haematology, 1989
- Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.Journal of Clinical Investigation, 1989
- Factor IX Kawachinagano: impaired function of the Gla‐domain caused by attached propeptide region due to substitution of arginine by glutamine at position −4British Journal of Haematology, 1989
- Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed‐y‐RhiwBritish Journal of Haematology, 1989
- Identification of a CpG mutation in the coagulation factor‐IX gene by analysis of amplified DNA sequencesBritish Journal of Haematology, 1988
- Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.Journal of Clinical Investigation, 1987
- Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX geneNature, 1985