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Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.
Roberts, Lisa; Julius, Stephanie; Dawlat, Shrinav; Yildiz, Safiye; Rebello, George; Meldau, Surita; Pillay, Komala; Esterhuizen, Alina; Vorster, Alvera; Benefeld, Gameda; da Rocha, Jorge; Beighton, Peter; Sellars, Sean L; Thandrayen, Kebashni; Pettifor, John M; Ramesar, Raj S.
Afiliação
  • Roberts L; UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Julius S; UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Dawlat S; Department of Human Genetics, National Health Laboratory Servicexs, Groote Schuur Hospital, Cape Town, South Africa.
  • Yildiz S; UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Rebello G; UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Meldau S; Department of Human Genetics, National Health Laboratory Servicexs, Groote Schuur Hospital, Cape Town, South Africa.
  • Pillay K; Division of Chemical Pathology, Department of Pathology, University of Cape Town, Cape Town, South Africa.
  • Esterhuizen A; Division of Anatomical Pathology, Department of Pathology, University of Cape Town, Cape Town, South Africa.
  • Vorster A; UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Benefeld G; Department of Human Genetics, National Health Laboratory Servicexs, Groote Schuur Hospital, Cape Town, South Africa.
  • da Rocha J; UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Beighton P; UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Sellars SL; Sydney Brenner Institute for Molecular Bioscience, Division of Human Genetics, National Health Laboratory Service, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Thandrayen K; UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Pettifor JM; Division of Otorhinolaryngology, Department of Surgery, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Ramesar RS; Department of Paediatrics, Chris Hani Baragwanath Academic Hospital and School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Hum Mutat ; 41(11): 1871-1876, 2020 11.
Article em En | MEDLINE | ID: mdl-32827185
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ribonucleotídeo Redutases / Proteínas de Ciclo Celular / Distrofias de Cones e Bastonetes / Perda Auditiva Neurossensorial / Nefropatias Limite: Female / Humans / Male País/Região como assunto: Africa Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: África do Sul
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ribonucleotídeo Redutases / Proteínas de Ciclo Celular / Distrofias de Cones e Bastonetes / Perda Auditiva Neurossensorial / Nefropatias Limite: Female / Humans / Male País/Região como assunto: Africa Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: África do Sul