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A novel mutation in thePLCD1gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia

Authors :
Hiroki Fujikawa
Muhammad Farooq
Abdul-Ghani Kibbi
Yutaka Shimomura
Ossama Abbas
Mazen Kurban
O. Obeidat
Atsushi Fujimoto
Source :
British Journal of Dermatology. 167:946-949
Publication Year :
2012
Publisher :
Oxford University Press (OUP), 2012.

Abstract

Frischmeyer PA, 1999, HUM MOL GENET, V8, P1893, DOI 10.1093-hmg-8.10.1893; GROSSMAN M, 1990, INT J DERMATOL, V29, P535, DOI 10.1111-j.1365-4362.1990.tb03463.x; Kiuru M, 2011, AM J HUM GENET, V88, P839, DOI 10.1016-j.ajhg.2011.05.014; Mecklenburg L, 2004, J INVEST DERMATOL, V123, P1001, DOI 10.1111-j.0022-202X.2004.23442.x; Nakamura Y, 2003, EMBO J, V22, P2981, DOI 10.1093-emboj-cdg302; Nakamura Y, 2008, FASEB J, V22, P841, DOI 10.1096-fj.07-9239com; NIWA H, 1991, GENE, V108, P193; Norgett EE, 2004, BRIT J DERMATOL, V151, P65, DOI 10.1111-j.1365-2133.2004.05994.x; Schlake T, 2000, DEV DYNAM, V217, P368, DOI 10.1002-(SICI)1097-0177(200004)217:4368::AID-DVDY43.0.CO;2-Z; Stewart AJ, 2005, INT J MOL MED, V15, P117

Details

ISSN :
00070963
Volume :
167
Database :
OpenAIRE
Journal :
British Journal of Dermatology
Accession number :
edsair.doi...........5cf44c8bc143205245c1d973946c6b14
Full Text :
https://doi.org/10.1111/j.1365-2133.2012.10962.x