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MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.
Jedlickova, Jana; Vajter, Marie; Barta, Tomas; Black, Graeme C M; Perveen, Rahat; Mares, Jan; Fichtl, Marek; Kousal, Bohdan; Dudakova, Lubica; Liskova, Petra.
Afiliación
  • Jedlickova J; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Vajter M; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Barta T; Department of Histology and Embryology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
  • Black GCM; Division of Evolution, and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Perveen R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Mares J; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Fichtl M; Division of Evolution, and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Kousal B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Dudakova L; Department of Ophthalmology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
  • Liskova P; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Clin Genet ; 104(4): 418-426, 2023 10.
Article en En | MEDLINE | ID: mdl-37321975
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Coloboma / Glaucoma / MicroARNs Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Dinamarca
Texto completo
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Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Coloboma / Glaucoma / MicroARNs Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Dinamarca