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Antenatal diagnosis of haemophilia B by amplification and electrophoresis of an exon fragment with a short deletion

Ljung, R. LU ; Green, P.; Sjörin, Elsy LU ; Giannelli, F. and Nilsson, I M (1992) In European Journal of Haematology 49(4). p.215-218
Abstract

Cartier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8-base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp band of the haemophilia B gene could be separated by electrophoresis of the fragments. The comprehensive data collection at the Haemophila Centre is of vital importance in the genetic counselling of haemophilia families, and was a crucial step for the successful diagnoses in these sisters.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
European Journal of Haematology
volume
49
issue
4
pages
4 pages
publisher
Wiley-Blackwell
external identifiers
  • Scopus:0026620631
ISSN
0902-4441
language
English
LU publication?
yes
id
2707d7ff-bca3-479a-a3be-5fdd905f548e
date added to LUP
2016-11-08 15:21:49
date last changed
2016-11-10 13:14:58
@misc{2707d7ff-bca3-479a-a3be-5fdd905f548e,
  abstract     = {<p>Cartier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8-base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp band of the haemophilia B gene could be separated by electrophoresis of the fragments. The comprehensive data collection at the Haemophila Centre is of vital importance in the genetic counselling of haemophilia families, and was a crucial step for the successful diagnoses in these sisters.</p>},
  author       = {Ljung, R. and Green, P. and Sjörin, Elsy and Giannelli, F. and Nilsson, I M},
  issn         = {0902-4441},
  language     = {eng},
  number       = {4},
  pages        = {215--218},
  publisher    = {ARRAY(0xc77a818)},
  series       = {European Journal of Haematology},
  title        = {Antenatal diagnosis of haemophilia B by amplification and electrophoresis of an exon fragment with a short deletion},
  volume       = {49},
  year         = {1992},
}