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1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family

Lower, KM ; Solders, G ; Bondeson, ML ; Nelson, J ; Brun, Arne LU ; Crawford, J ; Malm, G ; Borjeson, M ; Turner, G and Partington, M , et al. (2004) In European Journal of Human Genetics 12(10). p.787-789
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
European Journal of Human Genetics
volume
12
issue
10
pages
787 - 789
publisher
Nature Publishing Group
external identifiers
  • pmid:15241480
  • wos:000223928700001
  • scopus:6444229511
ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201228
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000)
id
8b46a568-183f-4fa2-b19f-a87a9e7c4979 (old id 267496)
date added to LUP
2016-04-01 12:25:53
date last changed
2022-01-27 03:38:32
@article{8b46a568-183f-4fa2-b19f-a87a9e7c4979,
  author       = {{Lower, KM and Solders, G and Bondeson, ML and Nelson, J and Brun, Arne and Crawford, J and Malm, G and Borjeson, M and Turner, G and Partington, M and Gecz, J}},
  issn         = {{1476-5438}},
  language     = {{eng}},
  number       = {{10}},
  pages        = {{787--789}},
  publisher    = {{Nature Publishing Group}},
  series       = {{European Journal of Human Genetics}},
  title        = {{1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family}},
  url          = {{http://dx.doi.org/10.1038/sj.ejhg.5201228}},
  doi          = {{10.1038/sj.ejhg.5201228}},
  volume       = {{12}},
  year         = {{2004}},
}