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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 (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.
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author
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
  • scopus:84955149199
  • wos:000378652000008
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
2016-01-05 18:19:40
date last changed
2017-01-01 07:37:28
@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},
  volume       = {90},
  year         = {2016},
}