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Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.
Dentici, Maria Lisa; Barresi, Sabina; Nardella, Marta; Bellacchio, Emanuele; Alfieri, Paolo; Bruselles, Alessandro; Pantaleoni, Francesca; Danieli, Alberto; Iarossi, Giancarlo; Cappa, Marco; Bertini, Enrico; Tartaglia, Marco; Zanni, Ginevra.
Afiliação
  • Dentici ML; Medical Genetics, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Barresi S; Molecular Genetics and Functional Genomics, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Nardella M; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bellacchio E; Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Alfieri P; Child Neuropsychiatry, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bruselles A; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Pantaleoni F; Molecular Genetics and Functional Genomics, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Danieli A; Unit of Epilepsy and Clinical Neurophysiology, IRCCS E. Medea-Conegliano, Italy.
  • Iarossi G; Ophthalmology Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cappa M; Endocrinology, Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Tartaglia M; Molecular Genetics and Functional Genomics, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: ginevra.zanni@opbg.net.
Gene ; 628: 141-145, 2017 Sep 10.
Article em En | MEDLINE | ID: mdl-28698159
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Ataxia Cerebelar / Receptores de Inositol 1,4,5-Trifosfato / Deficiência Intelectual / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child, preschool / Female / Humans Idioma: En Revista: Gene Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Ataxia Cerebelar / Receptores de Inositol 1,4,5-Trifosfato / Deficiência Intelectual / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child, preschool / Female / Humans Idioma: En Revista: Gene Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália País de publicação: Holanda