首页> European journal of human genetics : EJHG> Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.

Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.

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第一作者： Nathalie,Pironon

第一单位： Laboratory of Genetic Skin Diseases, Institut Imagine, Université Paris Cité, Inserm, UMR 1163, F-75015, Paris, France.

作者： Nathalie,Pironon ^[1] ; Artyom,Gasparyan ^[2] ; María Joao,Yubero ^[3] ; Sabine,Duchatelet ^[1] ; Kristina,Hovhannesyan ^[2] ; Stephanie,Leclerc-Mercier ^[4] ; Natella,Kostandyan ^[2] ; Francis,Palisson ^[3] ; Tamara,Sarkisian ^[2] ; Matthias,Titeux ^[1] ; Ignacia,Fuentes ^[5] ; Alain,Hovnanian ^[6]

作者单位： Laboratory of Genetic Skin Diseases, Institut Imagine, Université Paris Cité, Inserm, UMR 1163, F-75015, Paris, France. ^[1] Center of Medical Genetics and Primary Health Care, Abovyan Street, Yerevan, Armenia. ^[2] Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.;DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago, Chile. ^[3] Department of Pathology, AP-HP, Hôpital Necker-Enfants Malades, F-75015, Paris, France. ^[4] DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago, Chile. Ignacia.fuentesbustos@gmail.com.;Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile. Ignacia.fuentesbustos@gmail.com.;Departamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile. Ignacia.fuentesbustos@gmail.com. ^[5] Laboratory of Genetic Skin Diseases, Institut Imagine, Université Paris Cité, Inserm, UMR 1163, F-75015, Paris, France. alain.hovnanian@inserm.fr.;Department of Genomic Medicine of Rare Diseases, AP-HP, Hôpital Necker-Enfants Malades, F-75015, Paris, France. alain.hovnanian@inserm.fr. ^[6]