Direct carrier testing in 14 families with haemophilia B.
Journal Article (Journal Article)
Direct carrier testing was done in 54 at-risk female relatives of haemophilic patients by initially analysing 2.46 kb of the factor IX gene in 1 haemophiliac per family by genomic amplification with transcript sequencing. A presumptive mutation was found in all 14 haemophiliacs examined. Analyses were then done either by sequencing the appropriate region in at-risk female relatives or by detection of an altered restriction site. A simulation indicated that the mutation will be associated with an altered restriction site in about half the families. The technique has clinical application.
Full Text
Duke Authors
Cited Authors
- Bottema, CD; Koeberl, DD; Sommer, SS
Published Date
- September 2, 1989
Published In
Volume / Issue
- 2 / 8662
Start / End Page
- 526 - 529
PubMed ID
- 2570235
International Standard Serial Number (ISSN)
- 0140-6736
Digital Object Identifier (DOI)
- 10.1016/s0140-6736(89)90653-3
Language
- eng
Conference Location
- England