Origin of mutation in sporadic cases of severe haemophilia A in Sweden.
(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:
https://lup.lub.lu.se/record/8504980
- author
- Mårtensson, Annika LU ; Ivarsson, Sten LU ; Letelier, Anna ; Manderstedt, Eric ; Halldén, Christer LU and Ljung, Rolf LU
- organization
- publishing date
- 2016
- 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}}, }