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Mutation or knock-down of 17ß-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Deutschmann, Andrea J; Amberger, Albert; Zavadil, Claudia; Steinbeisser, Herbert; Mayr, Johannes A; Feichtinger, René G; Oerum, Stephanie; Yue, Wyatt W; Zschocke, Johannes.
Afiliação
  • Deutschmann AJ; Division of Human Genetics, Innsbruck Medical University, Innsbruck 6020, Austria.
  • Amberger A; Division of Human Genetics, Innsbruck Medical University, Innsbruck 6020, Austria.
  • Zavadil C; Division of Human Genetics, Innsbruck Medical University, Innsbruck 6020, Austria.
  • Steinbeisser H; Institute of Human Genetics, Heidelberg University, Heidelberg 69120, Germany.
  • Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg 5020, Austria.
  • Feichtinger RG; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg 5020, Austria.
  • Oerum S; Structural Genomics Consortium, University of Oxford, Oxford OX3 7DQ, UK.
  • Yue WW; Structural Genomics Consortium, University of Oxford, Oxford OX3 7DQ, UK.
  • Zschocke J; Division of Human Genetics, Innsbruck Medical University, Innsbruck 6020, Austria johannes.zschocke@i-med.ac.at.
Hum Mol Genet ; 23(13): 3618-28, 2014 Jul 01.
Article em En | MEDLINE | ID: mdl-24549042
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: 3-Hidroxiacil-CoA Desidrogenases / Metiltransferases Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Áustria
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: 3-Hidroxiacil-CoA Desidrogenases / Metiltransferases Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Áustria