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Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.
Sawicka, J; Kutkowska-Kazmierczak, A; Wozniak, K; Tysarowski, A; Osipowicz, K; Poznanski, J; Rygiel, A M; Braun-Walicka, N; Niepokój, K; Bal, J; Kowalewski, C; Wertheim-Tysarowska, K.
Afiliación
  • Sawicka J; Medical Genetics Department, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, PL, Poland.
  • Kutkowska-Kazmierczak A; Medical Genetics Department, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, PL, Poland.
  • Wozniak K; Department of Dermatology and Immunodermatology, Medical University of Warsaw, Koszykowa 82A, 00-001, Warsaw, PL, Poland.
  • Tysarowski A; Translational and Molecular Oncology Department, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, W. K. Roentgena 5, 02-781, Warsaw, PL, Poland.
  • Osipowicz K; Department of Dermatology and Immunodermatology, Medical University of Warsaw, Koszykowa 82A, 00-001, Warsaw, PL, Poland.
  • Poznanski J; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5A, 02-106, Warsaw, PL, Poland.
  • Rygiel AM; Medical Genetics Department, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, PL, Poland.
  • Braun-Walicka N; Medical Genetics Department, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, PL, Poland.
  • Niepokój K; Medical Genetics Department, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, PL, Poland.
  • Bal J; Medical Genetics Department, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, PL, Poland.
  • Kowalewski C; Department of Dermatology and Immunodermatology, Medical University of Warsaw, Koszykowa 82A, 00-001, Warsaw, PL, Poland.
  • Wertheim-Tysarowska K; Medical Genetics Department, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, PL, Poland. katarzyna.wertheim@imid.med.pl.
J Appl Genet ; 61(2): 187-193, 2020 May.
Article en En | MEDLINE | ID: mdl-31983024

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Pénfigo Familiar Benigno / ATPasas Transportadoras de Calcio / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: J Appl Genet Asunto de la revista: GENETICA Año: 2020 Tipo del documento: Article País de afiliación: Polonia

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Pénfigo Familiar Benigno / ATPasas Transportadoras de Calcio / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: J Appl Genet Asunto de la revista: GENETICA Año: 2020 Tipo del documento: Article País de afiliación: Polonia