A Dutch family with moderately severe hemophilia B (factor IXHeerde) has a missense mutation identical to that of factor IX London 2.
AUTOR(ES)
Poort, S R
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=317825Documentos Relacionados
- A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel).
- Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.
- Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).
- An intragenic deletion of the factor IX gene in a family with hemophilia B.
- Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.