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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Halewa, Judith; Marouillat, Sylviane; Dixneuf, Manon; Thépault, Rose-Anne; Ung, Dévina C; Chatron, Nicolas; Gérard, Bénédicte; Ghoumid, Jamal; Lesca, Gaëtan; Till, Marianne; Smol, Thomas; Couque, Nathalie; Ruaud, Lyse; Chune, Valérie; Grotto, Sarah; Verloes, Alain; Vuillaume, Marie-Laure; Toutain, Annick; Raynaud, Martine; Laumonnier, Frédéric.
Afiliação
  • Halewa J; UMR1253, iBrain, INSERM, University of Tours, Tours, France.
  • Marouillat S; UMR1253, iBrain, INSERM, University of Tours, Tours, France.
  • Dixneuf M; UMR1253, iBrain, INSERM, University of Tours, Tours, France.
  • Thépault RA; UMR1253, iBrain, INSERM, University of Tours, Tours, France.
  • Ung DC; UMR1253, iBrain, INSERM, University of Tours, Tours, France.
  • Chatron N; Department of Genetics, Hospices Civils de Lyon, Lyon, France.
  • Gérard B; Institut NeuroMyoGène, CNRS UMR-5310, INSERM U-1217, Univ Lyon, Université Claude Bernard Lyon 1, Lyon, France.
  • Ghoumid J; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Lesca G; EA7364 RADEME, Clinique de Génétique Guy Fontaine, Université de Lille, CHU de Lille, Lille, France.
  • Till M; Department of Genetics, Hospices Civils de Lyon, Lyon, France.
  • Smol T; Institut NeuroMyoGène, CNRS UMR-5310, INSERM U-1217, Univ Lyon, Université Claude Bernard Lyon 1, Lyon, France.
  • Couque N; Department of Genetics, Hospices Civils de Lyon, Lyon, France.
  • Ruaud L; EA7364 RADEME, Institut de Génétique Médicale, Université de Lille, CHU de Lille, Lille, France.
  • Chune V; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.
  • Grotto S; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.
  • Verloes A; INSERM, UMR1141, Denis Diderot School of Medicine, Paris University, Paris, France.
  • Vuillaume ML; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.
  • Toutain A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.
  • Raynaud M; INSERM, UMR1141, Denis Diderot School of Medicine, Paris University, Paris, France.
  • Laumonnier F; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.
Hum Mutat ; 42(7): 848-861, 2021 07.
Article em En | MEDLINE | ID: mdl-33856728
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Espectro Autista / Proteínas de Membrana / Deficiência Intelectual Limite: Animals / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Espectro Autista / Proteínas de Membrana / Deficiência Intelectual Limite: Animals / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França