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A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.
Demain, L A M; Antunes, D; O'Sullivan, J; Bhaskhar, S S; O'Keefe, R T; Newman, W G.
Afiliação
  • Demain LAM; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.
  • Antunes D; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • O'Sullivan J; Medical Genetics Department, Hospital de Dona Estefânia, Centro Hospitalar Lisboa Central, Lisbon, Portugal.
  • Bhaskhar SS; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.
  • O'Keefe RT; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • Newman WG; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.
Clin Genet ; 94(2): 276-277, 2018 08.
Article em En | MEDLINE | ID: mdl-29671881
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Predisposição Genética para Doença / Disgenesia Gonadal 46 XX / Perda Auditiva Neurossensorial / Nefropatias Idioma: En Ano de publicação: 2018 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: Proteínas de Ciclo Celular / Predisposição Genética para Doença / Disgenesia Gonadal 46 XX / Perda Auditiva Neurossensorial / Nefropatias Idioma: En Ano de publicação: 2018 Tipo de documento: Article