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Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.
Sheikh, Shakeel A; Sisk, Robert A; Schiavon, Cara R; Waryah, Yar M; Usmani, Muhammad A; Steel, David H; Sayer, John A; Narsani, Ashok K; Hufnagel, Robert B; Riazuddin, Saima; Kahn, Richard A; Waryah, Ali M; Ahmed, Zubair M.
Afiliación
  • Sheikh SA; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine University of Maryland, Baltimore, Maryland, United States.
  • Sisk RA; Molecular Biology & Genetics Department, Liaquat University of Medical & Health Sciences, Jamshoro, Pakistan.
  • Schiavon CR; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital, Cincinnati, Ohio, United States.
  • Waryah YM; Cincinnati Eye Institute, Cincinnati, Ohio, United States.
  • Usmani MA; Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia, United States.
  • Steel DH; Molecular Biology & Genetics Department, Liaquat University of Medical & Health Sciences, Jamshoro, Pakistan.
  • Sayer JA; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine University of Maryland, Baltimore, Maryland, United States.
  • Narsani AK; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, United Kingdom.
  • Hufnagel RB; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, United Kingdom.
  • Riazuddin S; Institute of Ophthalmology, Liaquat University of Medical & Health Sciences, Jamshoro, Pakistan.
  • Kahn RA; National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.
  • Waryah AM; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine University of Maryland, Baltimore, Maryland, United States.
  • Ahmed ZM; Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia, United States.
Invest Ophthalmol Vis Sci ; 60(14): 4811-4819, 2019 11 01.
Article en En | MEDLINE | ID: mdl-31743939
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Puntual / Factores de Ribosilacion-ADP / Distrofias de Conos y Bastones / Genes Recesivos Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Female / Humans / Male Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Puntual / Factores de Ribosilacion-ADP / Distrofias de Conos y Bastones / Genes Recesivos Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Female / Humans / Male Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos