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Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Majer, Filip; Kousal, Bohdan; Dusek, Petr; Piherova, Lenka; Reboun, Martin; Mihalova, Romana; Gurka, Jiri; Krebsova, Alice; Vlaskova, Hana; Dvorakova, Lenka; Krihova, Jana; Liskova, Petra; Kmoch, Stanislav; Kalina, Tomas; Kubanek, Milos; Sikora, Jakub.
Afiliación
  • 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.
  • Kousal B; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Dusek P; Department of Ophthalmology, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Piherova L; Department of Neurology and Center of Clinical Neuroscience, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Reboun M; Department of Radiology, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Mihalova R; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Gurka 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.
  • Krebsova A; Institute of Biology and Medical Genetics, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Vlaskova H; Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Dvorakova L; Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Krihova 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.
  • Liskova P; 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; Department of Psychology, Thomayer Hospital, Prague, Czech Republic.
  • Kalina T; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Kubanek M; Department of Ophthalmology, 1st Faculty of Medicine, Charles University and General University Hospital, 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 ; 182(1): 219-223, 2020 01.
Article en En | MEDLINE | ID: mdl-31729179
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidad Intelectual Ligada al Cromosoma X / Proteínas Cullin / Enfermedad por Depósito de Glucógeno de Tipo IIb / Proteína 2 de la Membrana Asociada a los Lisosomas Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: República Checa
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidad Intelectual Ligada al Cromosoma X / Proteínas Cullin / Enfermedad por Depósito de Glucógeno de Tipo IIb / Proteína 2 de la Membrana Asociada a los Lisosomas Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: República Checa