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Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.
Napolitano, F; Di Iorio, V; Testa, F; Tirozzi, A; Reccia, M G; Lombardi, L; Farina, O; Simonelli, F; Gianfrancesco, F; Di Iorio, G; Melone, M A B; Esposito, T; Sampaolo, S.
Afiliación
  • Napolitano F; Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, Naples, Italy.
  • Di Iorio V; Neurology Clinic II, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Tirozzi A; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Reccia MG; IRCCS INM Neuromed, Pozzilli, IS, Italy.
  • Lombardi L; IRCCS INM Neuromed, Pozzilli, IS, Italy.
  • Farina O; Neurology Clinic II, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Simonelli F; Neurology Clinic II, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Gianfrancesco F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Di Iorio G; Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, Naples, Italy.
  • Melone MAB; Neurology Clinic II, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Esposito T; Neurology Clinic II, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Sampaolo S; Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, Pennsylvania.
Clin Genet ; 93(5): 982-991, 2018 05.
Article en En | MEDLINE | ID: mdl-29364500
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Colágeno / Prolil Hidroxilasas / Hidroxilación / Miopía Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Colágeno / Prolil Hidroxilasas / Hidroxilación / Miopía Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Italia