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A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
Easton, Jennifer A; Albuloushi, Ahmad K; Kamps, Miriam A F; Brouns, Gladys H M R; Broers, Jos L V; Coull, Barry J; Oji, Vincent; van Geel, Michel; van Steensel, Maurice A M; Martin, Patricia E.
Afiliación
  • Easton JA; Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Albuloushi AK; GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.
  • Kamps MAF; Department of Life Sciences, School of Health and Life Sciences, Glasgow Caledonian University, Glasgow, UK.
  • Brouns GHMR; Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Broers JLV; GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.
  • Coull BJ; Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.
  • Oji V; Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • van Geel M; GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.
  • van Steensel MAM; Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.
  • Martin PE; Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.
Exp Dermatol ; 28(10): 1106-1113, 2019 10.
Article en En | MEDLINE | ID: mdl-29570224
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Conexinas / Mutación Missense / Eritroqueratodermia Variable Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Exp Dermatol Asunto de la revista: DERMATOLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Conexinas / Mutación Missense / Eritroqueratodermia Variable Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Exp Dermatol Asunto de la revista: DERMATOLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Dinamarca