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Gene mutations and inhibitor formation in patients with hemophilia B

Ljung, R. C R LU (1995) In Acta Haematologica 94(SUPPL. 1). p.49-52
Abstract

The nature of the mutation in the factor IX gene is an important factor in determining whether a patient with hemophilia B will develop an inhibitor. In a series of 62 Swedish families with hemophilia B, including 30 with the severe form, approximately one third of the families exhibiting deletions or nonsense mutations contained one member who developed an inhibitor. The risk for inhibitor development in family members carrying missense mutations was virtually zero.

Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
keywords
Deletions, Exon, Factor IX, Hemophilia B, Inhibitors, Missense mutations, Nonsense mutations, Paediatric
in
Acta Haematologica
volume
94
issue
SUPPL. 1
pages
49 - 52
publisher
Karger
external identifiers
  • Scopus:0029087058
ISSN
0001-5792
DOI
10.1159/000204029
language
English
LU publication?
yes
id
adae905a-7b38-49e7-bd23-1b142b345965
date added to LUP
2016-11-25 13:58:39
date last changed
2016-11-29 09:34:58
@misc{adae905a-7b38-49e7-bd23-1b142b345965,
  abstract     = {<p>The nature of the mutation in the factor IX gene is an important factor in determining whether a patient with hemophilia B will develop an inhibitor. In a series of 62 Swedish families with hemophilia B, including 30 with the severe form, approximately one third of the families exhibiting deletions or nonsense mutations contained one member who developed an inhibitor. The risk for inhibitor development in family members carrying missense mutations was virtually zero.</p>},
  author       = {Ljung, R. C R},
  issn         = {0001-5792},
  keyword      = {Deletions,Exon,Factor IX,Hemophilia B,Inhibitors,Missense mutations,Nonsense mutations,Paediatric},
  language     = {eng},
  number       = {SUPPL. 1},
  pages        = {49--52},
  publisher    = {ARRAY(0xb1dfd40)},
  series       = {Acta Haematologica},
  title        = {Gene mutations and inhibitor formation in patients with hemophilia B},
  url          = {http://dx.doi.org/10.1159/000204029},
  volume       = {94},
  year         = {1995},
}