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Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
Burda, Patricie; Suormala, Terttu; Heuberger, Dorothea; Schäfer, Alexandra; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R.
Afiliação
  • Burda P; Division of Metabolism, University Children's Hospital, CH-8032, Zurich, Switzerland.
  • Suormala T; Division of Metabolism, University Children's Hospital, CH-8032, Zurich, Switzerland.
  • Heuberger D; Division of Metabolism, University Children's Hospital, CH-8032, Zurich, Switzerland.
  • Schäfer A; Division of Surgical Research, University Hospital, CH-8091, Zurich, Switzerland.
  • Fowler B; Division of Metabolism, University Children's Hospital, CH-8032, Zurich, Switzerland.
  • Froese DS; Division of Metabolism, University Children's Hospital, CH-8032, Zurich, Switzerland.
  • Baumgartner MR; Division of Metabolism, University Children's Hospital, CH-8032, Zurich, Switzerland. sean.froese@kispi.uzh.ch.
J Inherit Metab Dis ; 40(2): 297-306, 2017 03.
Article em En | MEDLINE | ID: mdl-27743313
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Metilenotetra-Hidrofolato Redutase (NADPH2) / Homocistinúria / Espasticidade Muscular Idioma: En Ano de publicação: 2017 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: Mutação de Sentido Incorreto / Metilenotetra-Hidrofolato Redutase (NADPH2) / Homocistinúria / Espasticidade Muscular Idioma: En Ano de publicação: 2017 Tipo de documento: Article