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Determination of factor IX allotypes for carrier identification in haemophilia B

Wallmark, A.; Ljung, R. LU and Nilsson, I. M. (1987) In British Journal of Haematology 67(4). p.427-432
Abstract

The existence of two genetic variants (allotypes) of normal human factor IX is used for carrier detection in three families with severe and one with mild haemophilia B. By analysis of IX:Ag with two different monoclonal antibodies in 93 members of the families, allelic assignment is shown to be a complement in carrier diagnosis to genotypic DNA studies. Allelic assignment makes possible a reliable diagnosis based on phenotypic studies, though its usefulness is limited due to ethnic variation in allelic frequency. Determination of factor IX allotypes should be useful for carrier detection in any Swedish families with haemophilia B.

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author
organization
publishing date
type
Contribution to journal
publication status
published
in
British Journal of Haematology
volume
67
issue
4
pages
6 pages
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • scopus:0023622320
ISSN
0007-1048
DOI
10.1111/j.1365-2141.1987.tb06164.x
language
English
LU publication?
yes
id
8712ed7b-8a1e-4a18-b9cf-e0cf2403c472
date added to LUP
2018-10-12 12:09:35
date last changed
2018-10-22 15:51:56
@article{8712ed7b-8a1e-4a18-b9cf-e0cf2403c472,
  abstract     = {<p>The existence of two genetic variants (allotypes) of normal human factor IX is used for carrier detection in three families with severe and one with mild haemophilia B. By analysis of IX:Ag with two different monoclonal antibodies in 93 members of the families, allelic assignment is shown to be a complement in carrier diagnosis to genotypic DNA studies. Allelic assignment makes possible a reliable diagnosis based on phenotypic studies, though its usefulness is limited due to ethnic variation in allelic frequency. Determination of factor IX allotypes should be useful for carrier detection in any Swedish families with haemophilia B.</p>},
  author       = {Wallmark, A. and Ljung, R. and Nilsson, I. M.},
  issn         = {0007-1048},
  language     = {eng},
  month        = {01},
  number       = {4},
  pages        = {427--432},
  publisher    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  series       = {British Journal of Haematology},
  title        = {Determination of factor IX allotypes for carrier identification in haemophilia B},
  url          = {http://dx.doi.org/10.1111/j.1365-2141.1987.tb06164.x},
  volume       = {67},
  year         = {1987},
}