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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
Kennedy, Ann M; Inada, Masaki; Krane, Stephen M; Christie, Paul T; Harding, Brian; López-Otín, Carlos; Sánchez, Luis M; Pannett, Anna A J; Dearlove, Andrew; Hartley, Claire; Byrne, Michael H; Reed, Anita A C; Nesbit, M Andrew; Whyte, Michael P; Thakker, Rajesh V.
Affiliation
  • Kennedy AM; Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Oxford, United Kingdom.
J Clin Invest ; 115(10): 2832-42, 2005 Oct.
Article in En | MEDLINE | ID: mdl-16167086
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Full text: 1 Database: MEDLINE Main subject: Osteochondrodysplasias / Chromosomes, Human, Pair 11 / Collagenases / Mutation, Missense / Chromosome Disorders / Lod Score Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Clin Invest Year: 2005 Type: Article Affiliation country: United kingdom
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Full text: 1 Database: MEDLINE Main subject: Osteochondrodysplasias / Chromosomes, Human, Pair 11 / Collagenases / Mutation, Missense / Chromosome Disorders / Lod Score Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Clin Invest Year: 2005 Type: Article Affiliation country: United kingdom