1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family
(2004) In European Journal of Human Genetics 12(10). p.787-789
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/267496
- author
- organization
- publishing date
- 2004
- 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}}, }