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Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Martinelli, Simone; Pannone, Luca; Lissewski, Christina; Brinkmann, Julia; Flex, Elisabetta; Schanze, Denny; Calligari, Paolo; Anselmi, Massimiliano; Pantaleoni, Francesca; Canale, Viviana Claudia; Radio, Francesca Clementina; Ioannides, Adonis; Rahner, Nils; Schanze, Ina; Josifova, Dragana; Bocchinfuso, Gianfranco; Ryten, Mina; Stella, Lorenzo; Tartaglia, Marco; Zenker, Martin.
Afiliación
  • Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Pannone L; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Lissewski C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Brinkmann J; Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, Magdeburg, Germany.
  • Flex E; Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, Magdeburg, Germany.
  • Schanze D; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Calligari P; Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, Magdeburg, Germany.
  • Anselmi M; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma Tor Vergata, Rome, Italy.
  • Pantaleoni F; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma Tor Vergata, Rome, Italy.
  • Canale VC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Radio FC; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma Tor Vergata, Rome, Italy.
  • Ioannides A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Rahner N; Clinical Genetics, University of Nicosia Medical School, Nicosia, Cyprus.
  • Schanze I; South East Thames Regional Genetics Service, Guy's Hospital, London, UK.
  • Josifova D; Medical Faculty, Institute of Human Genetics, Heinrich-Heine University, Düsseldorf, Germany.
  • Bocchinfuso G; Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, Magdeburg, Germany.
  • Ryten M; South East Thames Regional Genetics Service, Guy's Hospital, London, UK.
  • Stella L; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma Tor Vergata, Rome, Italy.
  • Tartaglia M; South East Thames Regional Genetics Service, Guy's Hospital, London, UK.
  • Zenker M; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma Tor Vergata, Rome, Italy.
Hum Mutat ; 41(6): 1171-1182, 2020 06.
Article en En | MEDLINE | ID: mdl-32112654
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Péptidos / Proteína Tirosina Fosfatasa no Receptora Tipo 11 / Síndrome de Noonan Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Péptidos / Proteína Tirosina Fosfatasa no Receptora Tipo 11 / Síndrome de Noonan Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia