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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Jedlicková, Ivana; Cadieux-Dion, Maxime; Pristoupilová, Anna; Stránecký, Viktor; Hartmannová, Hana; Hodanová, Katerina; Baresová, Veronika; Hulková, Helena; Sikora, Jakub; Nosková, Lenka; Musálková, Dita; Vyletal, Petr; Sovová, Jana; Cossette, Patrick; Andermann, Eva; Andermann, Frederick; Kmoch, Stanislav.
Afiliação
  • Jedlicková I; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Cadieux-Dion M; Centre Hospitalier de L´Universite de Montréal, Montréal, QC, Canada.
  • Pristoupilová A; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
  • Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hodanová K; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Baresová V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hulková H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Sikora J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Nosková L; Institute of Pathology, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic.
  • Musálková D; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Vyletal P; Institute of Pathology, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic.
  • Sovová J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Cossette P; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Andermann E; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Andermann F; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Kmoch S; Centre Hospitalier de L´Universite de Montréal, Montréal, QC, Canada.
Eur J Hum Genet ; 28(6): 783-789, 2020 06.
Article em En | MEDLINE | ID: mdl-31919451
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Duplicação Gênica / Proteínas de Choque Térmico HSP40 / Proteínas de Membrana / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: República Tcheca
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Duplicação Gênica / Proteínas de Choque Térmico HSP40 / Proteínas de Membrana / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: República Tcheca