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OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.
Huber, Celine; Fradin, Mélanie; Edouard, Thomas; Le Merrer, Martine; Alanay, Yasemin; Da Silva, Daniela Bezerra; David, Albert; Hamamy, Hanan; van Hest, Liselotte; Lund, Allan M; Michaud, Jacques; Oley, Christine; Patel, Chirag; Rajab, Anna; Skidmore, David L; Stewart, Helen; Tauber, Maité; Munnich, Arnold; Cormier-Daire, Valerie.
Affiliation
  • Huber C; University Paris Descartes, Department of Genetics and INSERM U781, Hospital Necker Enfants-Malades, Paris, France.
Hum Mutat ; 31(1): 20-6, 2010 Jan.
Article in En | MEDLINE | ID: mdl-19877176
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Expression Regulation / Codon, Nonsense / Insulin-Like Growth Factor Binding Proteins / Mutation, Missense / Cytoskeletal Proteins / Growth Disorders Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2010 Type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Expression Regulation / Codon, Nonsense / Insulin-Like Growth Factor Binding Proteins / Mutation, Missense / Cytoskeletal Proteins / Growth Disorders Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2010 Type: Article Affiliation country: France