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Origin of mutation in sporadic cases of severe haemophilia A in Sweden.

Mårtensson, Annika LU ; Ivarsson, Sten LU ; Letelier, Anna ; Manderstedt, Eric ; Halldén, Christer LU and Ljung, Rolf LU orcid (2016) In Clinical Genetics 90(1). p.63-68
Abstract
Many newly diagnosed Swedish severe haemophilia A (HA) patients are sporadic cases. Some genotypically non-carrier mothers have gone on to have two descendants with the same mutation, presumably due to mosaicism.
Please use this url to cite or link to this publication:
author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Clinical Genetics
volume
90
issue
1
pages
63 - 68
publisher
Wiley-Blackwell
external identifiers
  • pmid:26661908
  • pmid:26661908
  • wos:000378652000008
  • scopus:84973636654
ISSN
0009-9163
DOI
10.1111/cge.12709
language
English
LU publication?
yes
id
26339bcc-2a33-4639-9d35-35c2968ee1a4 (old id 8504980)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26661908?dopt=Abstract
date added to LUP
2016-04-04 08:34:52
date last changed
2022-03-15 08:19:01
@article{26339bcc-2a33-4639-9d35-35c2968ee1a4,
  abstract     = {{Many newly diagnosed Swedish severe haemophilia A (HA) patients are sporadic cases. Some genotypically non-carrier mothers have gone on to have two descendants with the same mutation, presumably due to mosaicism.}},
  author       = {{Mårtensson, Annika and Ivarsson, Sten and Letelier, Anna and Manderstedt, Eric and Halldén, Christer and Ljung, Rolf}},
  issn         = {{0009-9163}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{63--68}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Clinical Genetics}},
  title        = {{Origin of mutation in sporadic cases of severe haemophilia A in Sweden.}},
  url          = {{http://dx.doi.org/10.1111/cge.12709}},
  doi          = {{10.1111/cge.12709}},
  volume       = {{90}},
  year         = {{2016}},
}