Germ line origins of de novo mutations in hemophilia B families
- 1 September 1994
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 94 (3) , 299-302
- https://doi.org/10.1007/bf00208288
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Recurrent mutations in the factor IX gene: founder effect or repeat de novo eventsHuman Genetics, 1993
- Five novel factor IX mutations in unrelated hemophilia B familiesHuman Molecular Genetics, 1993
- Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.1993
- Origin of mutation in sporadic cases of haemophilia‐BEuropean Journal of Haematology, 1992
- Parental origin of factor IX gene mutations, and their distribution in the gene.1992
- CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle seriesHuman Genetics, 1991
- Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).Proceedings of the National Academy of Sciences, 1991
- Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacsHuman Genetics, 1990
- DIAGNOSTIC ROLE OF AN IMMUNOASSAY-DETECTED POLYMORPHISM OF FACTOR-IX FOR POTENTIAL CARRIERS OF HEMOPHILIA-B1988
- OCCURRENCE OF NEW MUTANTS IN X-LINKED RECESSIVE LESCH-NYHAN DISEASE1976