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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Lookup NU author(s): Dr Michael Wright

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Author(s): Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Le Merrer M, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD

Publication type: Article

Journal: European Journal of Human Genetics

Year: 2007

Volume: 15

Issue: 2

Pages: 150-154

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/sj.ejhg.5201744

DOI: 10.1038/sj.ejhg.5201744

PubMed id: 17133256


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