Your browser doesn't support javascript.
loading
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Blommaert, Eline; Péanne, Romain; Cherepanova, Natalia A; Rymen, Daisy; Staels, Frederik; Jaeken, Jaak; Race, Valérie; Keldermans, Liesbeth; Souche, Erika; Corveleyn, Anniek; Sparkes, Rebecca; Bhattacharya, Kaustuv; Devalck, Christine; Schrijvers, Rik; Foulquier, François; Gilmore, Reid; Matthijs, Gert.
Afiliação
  • Blommaert E; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.
  • Péanne R; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.
  • Cherepanova NA; Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA 01655.
  • Rymen D; Division of Metabolic Diseases, University Children's Hospital, 8032 Zürich, Switzerland.
  • Staels F; KU Leuven Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, 3000 Leuven, Belgium.
  • Jaeken J; Department of Pediatrics, Center for Metabolic Diseases, KU Leuven, 3000 Leuven, Belgium.
  • Race V; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.
  • Keldermans L; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.
  • Souche E; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.
  • Corveleyn A; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.
  • Sparkes R; Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada.
  • Bhattacharya K; Genetic Metabolic Disorders Service, Children's Hospital Westmead Clinical School, University of Sydney, NSW 2145 Westmead, Australia.
  • Devalck C; Department of Hemato-Oncology, Hôpital Universitaire Des Enfants Reine Fabiola, Université Libre de Bruxelles, 1020 Brussels, Belgium.
  • Schrijvers R; KU Leuven Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, 3000 Leuven, Belgium.
  • Foulquier F; Unité de Glycobiologie Structurale et Fonctionnelle, University Lille, CNRS, UMR 8576, F-59000 Lille, France.
  • Gilmore R; Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA 01655.
  • Matthijs G; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium; gert.matthijs@kuleuven.be.
Proc Natl Acad Sci U S A ; 116(20): 9865-9870, 2019 05 14.
Article em En | MEDLINE | ID: mdl-31036665
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Proteínas de Transporte de Cátions Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Proteínas de Transporte de Cátions Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article