Recurrent mutations in the factor IX gene: founder effect or repeat de novo events
- 1 August 1993
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 92 (1), 40-48
- https://doi.org/10.1007/bf00216143
Abstract
No abstract availableKeywords
This publication has 35 references indexed in Scilit:
- Factor IX mutations: Rapid, direct screening methods for 20 new families with hemophilia BThrombosis Research, 1992
- Evidence that descendants of three founders constitute about 25% of hemophilia B in the united statesGenomics, 1991
- Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneityBritish Journal of Haematology, 1991
- Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter regionBritish Journal of Haematology, 1991
- A past mutation at Isoleucine397 is now a common cause of moderate/mild haemophilia BBritish Journal of Haematology, 1990
- "Founder" effect in different families with haemophilia B mutationThe Lancet, 1990
- Diagnosis of haemophilia B using the polymerase chain reactionBlut: Zeitschrift für die Gesamte Blutforschung, 1990
- DETECTION OF POLYMORPHISMS AT CYTOSINE PHOSPHOGUANADINE DINUCLEOTIDES AND DIAGNOSIS OF HAEMOPHILIA B CARRIERSThe Lancet, 1989
- Recurrent mutations in haemophilia A give evidence for CpG mutation hotspotsNature, 1986
- DIAGNOSIS OF HAEMOPHILIA B CARRIERS USING INTRAGENIC OLIGONUCLEOTIDE PROBESThe Lancet, 1986