Your browser doesn't support javascript.
loading
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.
Pangrazio, Alessandra; Puddu, Alessandro; Oppo, Manuela; Valentini, Maria; Zammataro, Luca; Vellodi, Ashok; Gener, Blanca; Llano-Rivas, Isabel; Raza, Jamal; Atta, Irum; Vezzoni, Paolo; Superti-Furga, Andrea; Villa, Anna; Sobacchi, Cristina.
  • Pangrazio A; UOS/IRGB, Milan Unit, CNR, Milan, Italy; Humanitas Clinical and Research Center, Rozzano, Italy.
  • Puddu A; CRS4 Bioinformatics Laboratory, Parco Scientifico e Tecnologico POLARIS, Pula, Italy; IRGB-CNR, Cittadella Universitaria di Monserrato, Cagliari, Italy.
  • Oppo M; CRS4 Bioinformatics Laboratory, Parco Scientifico e Tecnologico POLARIS, Pula, Italy.
  • Valentini M; CRS4 Bioinformatics Laboratory, Parco Scientifico e Tecnologico POLARIS, Pula, Italy.
  • Zammataro L; Humanitas Clinical and Research Center, Rozzano, Italy.
  • Vellodi A; Great Ormond Street Children's Hospital, London, United Kingdom.
  • Gener B; Servicio de Genética, BioCruces Health Research Institute, Hospital Universitario Cruces, Barakaldo, Spain.
  • Llano-Rivas I; Servicio de Genética, BioCruces Health Research Institute, Hospital Universitario Cruces, Barakaldo, Spain.
  • Raza J; National Institute of Child Health, Karachi, Pakistan.
  • Atta I; National Institute of Child Health, Karachi, Pakistan.
  • Vezzoni P; UOS/IRGB, Milan Unit, CNR, Milan, Italy; Humanitas Clinical and Research Center, Rozzano, Italy.
  • Superti-Furga A; Department of Pediatrics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Villa A; UOS/IRGB, Milan Unit, CNR, Milan, Italy; Humanitas Clinical and Research Center, Rozzano, Italy.
  • Sobacchi C; UOS/IRGB, Milan Unit, CNR, Milan, Italy; Humanitas Clinical and Research Center, Rozzano, Italy. Electronic address: cristina.sobacchi@humanitasresearch.it.
Bone ; 59: 122-6, 2014 Feb.
Article en En | MEDLINE | ID: mdl-24269275
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteopetrosis / Catepsina K / Exoma / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteopetrosis / Catepsina K / Exoma / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article