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A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Biswas, Pooja; Chavali, Venkata Ramana Murthy; Agnello, Giulia; Stone, Everett; Chakarova, Christina; Duncan, Jacque L; Kannabiran, Chitra; Homsher, Melissa; Bhattacharya, Shomi S; Naeem, Muhammad Asif; Kimchi, Adva; Sharon, Dror; Iwata, Takeshi; Riazuddin, Shaikh; Reddy, G Bhanuprakash; Hejtmancik, J Fielding; Georgiou, George; Riazuddin, S Amer; Ayyagari, Radha.
Afiliação
  • Biswas P; Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.
  • Chavali VR; Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.
  • Agnello G; Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.
  • Stone E; Departments of Biomedical and Chemical Engineering, Molecular Biosciences, Section of Molecular Genetics and Microbiology, and Institute for Cell and Molecular Biology, The University of Texas at Austin, Austin, TX, USA.
  • Chakarova C; Departments of Biomedical and Chemical Engineering, Molecular Biosciences, Section of Molecular Genetics and Microbiology, and Institute for Cell and Molecular Biology, The University of Texas at Austin, Austin, TX, USA.
  • Duncan JL; UCL Institute of Ophthalmology, 11-43 Bath Street, London, UK.
  • Kannabiran C; Ophthalmology, University of California San Francisco, San Francisco, CA, USA.
  • Homsher M; Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute (LVPEI), Kallam Anji Reddy Campus, L V Prasad Marg, Hyderabad 500 034, India.
  • Bhattacharya SS; Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.
  • Naeem MA; UCL Institute of Ophthalmology, 11-43 Bath Street, London, UK.
  • Kimchi A; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Iwata T; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Riazuddin S; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Reddy GB; Allama Iqbal Medical College, University of Health Sciences Lahore, Pakistan.
  • Hejtmancik JF; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
  • Georgiou G; National Institute of Nutrition, Hyderabad 500 007, India.
  • Riazuddin SA; OMGS/OGVFB branch, National Eye Institute, NIH, Bethesda, MD, USA.
  • Ayyagari R; Departments of Biomedical and Chemical Engineering, Molecular Biosciences, Section of Molecular Genetics and Microbiology, and Institute for Cell and Molecular Biology, The University of Texas at Austin, Austin, TX, USA.
Hum Mol Genet ; 25(12): 2483-2497, 2016 06 15.
Article em En | MEDLINE | ID: mdl-27106100
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Asparaginase / Retina / Degeneração Retiniana / Autoantígenos / Células Fotorreceptoras Retinianas Cones / Predisposição Genética para Doença Limite: Adult / Animals / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Asparaginase / Retina / Degeneração Retiniana / Autoantígenos / Células Fotorreceptoras Retinianas Cones / Predisposição Genética para Doença Limite: Adult / Animals / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article