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Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

Lookup NU author(s): Professor Michael Briggs


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Publication metadata

Author(s): Jackson G, Mittaz-Crettol L, Taylor J, Mortier G, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall C, Offiah A, Wright M, Savarirayan R, Nishimura G, Ramsden S, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs M

Publication type: Article

Publication status: Published

Journal: Human Mutation

Year: 2012

Volume: 33

Issue: 1

Pages: 144-157

Print publication date: 31/10/2011

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: Wiley Blackwell


DOI: 10.1002/humu.21611


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Funder referenceFunder name
Leenaards Foundation in Lausanne
071161/Z/03/ZWellcome Trust
084353/Z/07/ZWellcome Trust
FN 310030-132940Swiss National Science Foundation
LSHM-CT-2007-037471European Commission
QLG1-CT-2001-02188European Commission