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SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers, Richard J L F; van der Stoep, Nienke; Vliet, Patrick J van der; Moore, Steven A; San Leon Granado, David; Johnson, Katherine; Topf, Ana; Straub, Volker; Evangelista, Teresinha; Mozaffar, Tahseen; Kimonis, Virginia; Shaw, Natalie D; Selvatici, Rita; Ferlini, Alessandra; Voermans, Nicol; van Engelen, Baziel; Sacconi, Sabrina; Tawil, Rabi; Lamers, Meindert; van der Maarel, Silvère M.
Afiliação
  • Lemmers RJLF; Human Genetics, Leids Universitair Medisch Centrum, Leiden, The Netherlands r.j.l.f.lemmers@lumc.nl.
  • van der Stoep N; Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leids Universitair Medisch Centrum, Leiden, The Netherlands.
  • Vliet PJV; Human Genetics, Leids Universitair Medisch Centrum, Leiden, The Netherlands.
  • Moore SA; Department of Pathology, University of Iowa, Iowa City, Iowa, USA.
  • San Leon Granado D; Human Genetics, Leids Universitair Medisch Centrum, Leiden, The Netherlands.
  • Johnson K; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Topf A; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Evangelista T; Unité de Morphologie Neuromusculaire, Institut de Myologie, Paris, France.
  • Mozaffar T; Department of Neurology, University of California Irvine, Irvine, California, USA.
  • Kimonis V; Department of Pediatrics, University of California, Irvine, Irvine, California, USA.
  • Shaw ND; Research Triangle Park, Research Triangle Park, NC, USA.
  • Selvatici R; Department of Medical Sciences; Medical Genetics Unit, University of Ferrara, Ferrara, Italy.
  • Ferlini A; Dipartimento di Medicina Sperimentale e Diagnostica, Università di Ferrara, Ferrara, Italy.
  • Voermans N; Department of Neurology, Radboudumc, Nijmegen, Gelderland, The Netherlands.
  • van Engelen B; Department of Neurology, Radboudumc, Nijmegen, Gelderland, The Netherlands.
  • Sacconi S; Centre de Référence Maladies Neuromusculaires, Hôpital Archet, Nice, France.
  • Tawil R; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
  • Lamers M; Department of Cell and Chemical Biology, Leiden Universitair Medisch Centrum, Leiden, The Netherlands.
  • van der Maarel SM; Human Genetics, Leids Universitair Medisch Centrum, Leiden, The Netherlands.
J Med Genet ; 56(10): 693-700, 2019 10.
Article em En | MEDLINE | ID: mdl-31243061
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Microftalmia / Nariz / Atresia das Cóanas / Distrofia Muscular Facioescapuloumeral Limite: Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Microftalmia / Nariz / Atresia das Cóanas / Distrofia Muscular Facioescapuloumeral Limite: Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda