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Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.
Fastré, E; Lanteigne, L-E; Helaers, R; Giacalone, G; Revencu, N; Dionyssiou, D; Demiri, E; Brouillard, P; Vikkula, M.
Afiliação
  • Fastré E; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
  • Lanteigne LE; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
  • Helaers R; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
  • Giacalone G; Lymfecentrum, AZ Sint-Maarten, Mechelen, Belgium.
  • Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, University of Louvain, Brussels, Belgium.
  • Dionyssiou D; Department of Plastic Surgery, Papageorgiou Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
  • Demiri E; Department of Plastic Surgery, Papageorgiou Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
  • Brouillard P; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
  • Vikkula M; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
Clin Genet ; 94(1): 179-181, 2018 07.
Article em En | MEDLINE | ID: mdl-29542815

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sítios de Splice de RNA / Fator C de Crescimento do Endotélio Vascular / Estudos de Associação Genética / Mutação com Perda de Função / Linfedema Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sítios de Splice de RNA / Fator C de Crescimento do Endotélio Vascular / Estudos de Associação Genética / Mutação com Perda de Função / Linfedema Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article