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Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
Testa, Francesco; Filippelli, Mariaelena; Brunetti-Pierri, Raffaella; Di Fruscio, Giuseppina; Di Iorio, Valentina; Pizzo, Mariateresa; Torella, Annalaura; Barillari, Maria Rosaria; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Simonelli, Francesca; Banfi, Sandro.
Afiliação
  • Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
  • Filippelli M; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
  • Brunetti-Pierri R; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
  • Di Fruscio G; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
  • Di Iorio V; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
  • Pizzo M; Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.
  • Torella A; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
  • Barillari MR; Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.
  • Nigro V; Division of Phoniatrics and Audiology, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
  • Brunetti-Pierri N; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
  • Simonelli F; Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.
  • Banfi S; Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.
Eur J Hum Genet ; 25(5): 651-655, 2017 05.
Article em En | MEDLINE | ID: mdl-28272537
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Colina-Fosfato Citidililtransferase / Distrofias Retinianas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Colina-Fosfato Citidililtransferase / Distrofias Retinianas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália