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:
https://lup.lub.lu.se/record/adae905a-7b38-49e7-bd23-1b142b345965
- author
- Ljung, R. C R
LU
- organization
- publishing date
- 1995
- 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
-
- pmid:7571995
- 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
- 2024-01-19 13:38:26
@article{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}},
keywords = {{Deletions; Exon; Factor IX; Hemophilia B; Inhibitors; Missense mutations; Nonsense mutations; Paediatric}},
language = {{eng}},
number = {{SUPPL. 1}},
pages = {{49--52}},
publisher = {{Karger}},
series = {{Acta Haematologica}},
title = {{Gene mutations and inhibitor formation in patients with hemophilia B}},
url = {{http://dx.doi.org/10.1159/000204029}},
doi = {{10.1159/000204029}},
volume = {{94}},
year = {{1995}},
}