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LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
Majer, Filip; Piherova, Lenka; Reboun, Martin; Stara, Veronika; Pelak, Ondrej; Norambuena, Patricia; Stranecky, Viktor; Krebsova, Alice; Vlaskova, Hana; Dvorakova, Lenka; Kmoch, Stanislav; Kalina, Tomas; Kubanek, Milos; Sikora, Jakub.
Affiliation
  • Majer F; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Piherova L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Reboun M; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Stara V; Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Pelak O; Department of Paediatric Haematology and Oncology, Childhood Leukaemia Investigation Prague, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Norambuena P; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Stranecky V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Krebsova A; Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Vlaskova H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Dvorakova L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Kalina T; Department of Paediatric Haematology and Oncology, Childhood Leukaemia Investigation Prague, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Kubanek M; Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Sikora J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
Am J Med Genet A ; 176(11): 2430-2434, 2018 11.
Article in En | MEDLINE | ID: mdl-30194816
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / Glycogen Storage Disease Type IIb / Lysosomal-Associated Membrane Protein 2 / DNA Copy Number Variations Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / Glycogen Storage Disease Type IIb / Lysosomal-Associated Membrane Protein 2 / DNA Copy Number Variations Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Country of publication: