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A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Biswas, Pooja; Duncan, Jacque L; Ali, Muhammad; Matsui, Hiroko; Naeem, Muhammad Asif; Raghavendra, Pongali B; Frazer, Kelly A; Arts, Heleen H; Riazuddin, Sheikh; Akram, Javed; Hejtmancik, J Fielding; Riazuddin, S Amer; Ayyagari, Radha.
Afiliación
  • Biswas P; Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.
  • Duncan JL; School of Biotechnology, REVA University, Bengaluru, Karnataka, India.
  • Ali M; Department of Ophthalmology, University of California San Francisco, San Francisco, CA, USA.
  • Matsui H; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Naeem MA; Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA.
  • Raghavendra PB; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Frazer KA; School of Biotechnology, REVA University, Bengaluru, Karnataka, India.
  • Arts HH; School of Regenerative Medicine, Manipal University, Bangalore, India.
  • Riazuddin S; Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA.
  • Akram J; Department of Pediatrics, Division of Genome Information Sciences, Rady Children's Hospital, San Diego, CA, USA.
  • Hejtmancik JF; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.
  • Riazuddin SA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Ayyagari R; Allama Iqbal Medical College, University of Health Sciences Lahore, Pakistan.
Hum Mol Genet ; 26(23): 4741-4751, 2017 12 01.
Article en En | MEDLINE | ID: mdl-28973684
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Proteínas Portadoras Tipo de estudio: Etiology_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Proteínas Portadoras Tipo de estudio: Etiology_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido