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Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).
Toral-López, Jaime; Gonzalez-Huerta, Luz Maria; Sosa, Blanca; Orozco, Sócrates; González, Hugo Peláez; Cuevas-Covarrubias, Sergio A.
Affiliation
  • Toral-López J; Departamento de Genética, Centro Médico ISSEMYM, Ecatepec, Edo. Mex., Servicio de Genética, Hospital General de México, México DF, Mexico.
J Investig Med ; 59(2): 277-80, 2011 Feb.
Article in En | MEDLINE | ID: mdl-21099701
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cathepsin K / Pycnodysostosis / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: J Investig Med Journal subject: MEDICINA Year: 2011 Document type: Article Affiliation country: Mexico Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cathepsin K / Pycnodysostosis / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: J Investig Med Journal subject: MEDICINA Year: 2011 Document type: Article Affiliation country: Mexico Country of publication: United kingdom