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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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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
id
8b46a568-183f-4fa2-b19f-a87a9e7c4979 (old id 267496)
date added to LUP
2007-10-24 20:53:40
date last changed
2017-01-01 05:08:18
@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},
  volume       = {12},
  year         = {2004},
}