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Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
Handley, Mark T; Mégarbané, André; Meynert, Alison M; Brown, Stephen; Freyer, Elisabeth; Taylor, Martin S; Jackson, Ian J; Aligianis, Irene A.
Afiliação
  • Handley MT; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
  • Mégarbané A; Institut Médical Jérôme Lejeune et Fondation Jérome Lejeune Paris, France ; Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph Beirut, Lebanon.
  • Meynert AM; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
  • Brown S; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
  • Freyer E; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
  • Taylor MS; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
  • Jackson IJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
  • Aligianis IA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
Mol Genet Genomic Med ; 2(4): 319-25, 2014 Jul.
Article em En | MEDLINE | ID: mdl-25077174
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2014 Tipo de documento: Article