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The p.Cys169Tyr variant of connexin 26 is not a polymorphism.
Zonta, Francesco; Girotto, Giorgia; Buratto, Damiano; Crispino, Giulia; Morgan, Anna; Abdulhadi, Khalid; Alkowari, Moza; Badii, Ramin; Gasparini, Paolo; Mammano, Fabio.
Afiliación
  • Zonta F; Dipartimento di Fisica e Astronomia 'G. Galilei', Università di Padova, 35131 Padova, Italy.
  • Girotto G; Department of Medical, Surgical and Health Sciences, University of Trieste, 34100 Trieste, Italy.
  • Buratto D; Dipartimento di Fisica e Astronomia 'G. Galilei', Università di Padova, 35131 Padova, Italy.
  • Crispino G; Dipartimento di Fisica e Astronomia 'G. Galilei', Università di Padova, 35131 Padova, Italy, Istituto Veneto di Medicina Molecolare, Fondazione per la Ricerca Biomedica Avanzata, 35129 Padova, Italy.
  • Morgan A; Department of Medical, Surgical and Health Sciences, University of Trieste, 34100 Trieste, Italy.
  • Abdulhadi K; Audiology and Balance Unit, National Program for Early Detection of Hearing Loss, WH, Hamad Medical Corporation (HMC) Doha, Doha, Qatar.
  • Alkowari M; Molecular Genetics Laboratory, Department of Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar.
  • Badii R; Molecular Genetics Laboratory, Department of Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar.
  • Gasparini P; Department of Medical, Surgical and Health Sciences, University of Trieste, 34100 Trieste, Italy, Medical Genetics, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', Trieste, Italy and.
  • Mammano F; Dipartimento di Fisica e Astronomia 'G. Galilei', Università di Padova, 35131 Padova, Italy, Istituto Veneto di Medicina Molecolare, Fondazione per la Ricerca Biomedica Avanzata, 35129 Padova, Italy, CNR Institute of Cell Biology and Neurobiology, 00015 Monterotondo, Rome, Italy fabio.mammano@cnr.it
Hum Mol Genet ; 24(9): 2641-8, 2015 May 01.
Article en En | MEDLINE | ID: mdl-25628337

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Conexinas / Sustitución de Aminoácidos / Mutación Missense / Alelos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Conexinas / Sustitución de Aminoácidos / Mutación Missense / Alelos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia