Your browser doesn't support javascript.
loading
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
Li, Lin; Jiao, Xiaodong; D'Atri, Ilaria; Ono, Fumihito; Nelson, Ralph; Chan, Chi-Chao; Nakaya, Naoki; Ma, Zhiwei; Ma, Yan; Cai, Xiaoying; Zhang, Longhua; Lin, Siying; Hameed, Abdul; Chioza, Barry A; Hardy, Holly; Arno, Gavin; Hull, Sarah; Khan, Muhammad Imran; Fasham, James; Harlalka, Gaurav V; Michaelides, Michel; Moore, Anthony T; Coban Akdemir, Zeynep Hande; Jhangiani, Shalini; Lupski, James R; Cremers, Frans P M; Qamar, Raheel; Salman, Ahmed; Chilton, John; Self, Jay; Ayyagari, Radha; Kabir, Firoz; Naeem, Muhammad Asif; Ali, Muhammad; Akram, Javed; Sieving, Paul A; Riazuddin, Sheikh; Baple, Emma L; Riazuddin, S Amer; Crosby, Andrew H; Hejtmancik, J Fielding.
Afiliação
  • Li L; Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, P.R. China.
  • Jiao X; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • D'Atri I; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Ono F; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Nelson R; Section on Model Synaptic Systems, Laboratory of Molecular Physiology, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Chan CC; Department of Physiology, Osaka Medical College, Takatsuki, Japan.
  • Nakaya N; Unit on Neural Circuits, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Ma Z; Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Ma Y; Section of Molecular Mechanisms of Glaucoma, Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Cai X; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Zhang L; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Lin S; School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, P.R. China.
  • Hameed A; School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, P.R. China.
  • Chioza BA; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Hardy H; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Arno G; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
  • Hull S; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Khan MI; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Fasham J; Institute of Ophthalmology, University College London, London, United Kingdom.
  • Harlalka GV; Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom.
  • Michaelides M; Institute of Ophthalmology, University College London, London, United Kingdom.
  • Moore AT; Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom.
  • Coban Akdemir ZH; Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.
  • Jhangiani S; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Lupski JR; Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Cremers FPM; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Qamar R; Institute of Ophthalmology, University College London, London, United Kingdom.
  • Salman A; Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom.
  • Chilton J; Institute of Ophthalmology, University College London, London, United Kingdom.
  • Self J; Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom.
  • Ayyagari R; Ophthalmology Department, UCSF School of Medicine, San Francisco, California, United States of America.
  • Kabir F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Naeem MA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America.
  • Ali M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Akram J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America.
  • Sieving PA; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Riazuddin S; Texas Children's Hospital, Houston, Texas, United States of America.
  • Baple EL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Riazuddin SA; Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.
  • Crosby AH; Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
  • Hejtmancik JF; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
PLoS Genet ; 14(8): e1007504, 2018 08.
Article em En | MEDLINE | ID: mdl-30157172
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Canais de Cloreto / Mutação de Sentido Incorreto Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Canais de Cloreto / Mutação de Sentido Incorreto Idioma: En Ano de publicação: 2018 Tipo de documento: Article