Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.

Yenamandra, V K; van den Akker, P C; Lemmink, H H; Jan, S Z; Diercks, G F H; Vermeer, M; van den Berg, M P; van der Meer, P; Pasmooij, A M G; Sinke, R J; Jonkman, M F; Bolling, M C

Yenamandra, V K; van den Akker, P C; Lemmink, H H; Jan, S Z; Diercks, G F H; Vermeer, M; van den Berg, M P; van der Meer, P; Pasmooij, A M G; Sinke, R J; Jonkman, M F; Bolling, M C.

Afiliação

Yenamandra VK; Department of Dermatology, Center for Blistering Diseases, Groningen, The Netherlands.
van den Akker PC; Department of Genetics, Groningen, The Netherlands.
Lemmink HH; Department of Genetics, Groningen, The Netherlands.
Jan SZ; Department of Genetics, Groningen, The Netherlands.
Diercks GFH; Department of Pathology, Groningen, The Netherlands.
Vermeer M; Department of Cardiology, Groningen, The Netherlands.
van den Berg MP; Department of Cardiology, Groningen, The Netherlands.
van der Meer P; Department of Cardiology, Groningen, The Netherlands.
Pasmooij AMG; Department of Dermatology, Center for Blistering Diseases, Groningen, The Netherlands.
Sinke RJ; Department of Genetics, Groningen, The Netherlands.
Jonkman MF; Department of Dermatology, Center for Blistering Diseases, Groningen, The Netherlands.
Bolling MC; Department of Dermatology, Center for Blistering Diseases, Groningen, The Netherlands.

Br J Dermatol ; 179(5): 1181-1183, 2018 11.

Article em En | MEDLINE | ID: mdl-29779254

Assuntos

Cardiomiopatia Dilatada/genética; Epidermólise Bolhosa Simples/genética; Proteínas Repressoras/genética; Adolescente; Adulto; Cardiomiopatia Dilatada/complicações; Cardiomiopatia Dilatada/cirurgia; Membrana Celular/metabolismo; Células Cultivadas; Análise Mutacional de DNA; Epidermólise Bolhosa Simples/complicações; Epidermólise Bolhosa Simples/patologia; Transplante de Coração; Humanos; Queratinócitos/citologia; Queratinócitos/metabolismo; Queratinócitos/ultraestrutura; Masculino; Microscopia Eletrônica; Mutação; Miócitos Cardíacos/citologia; Miócitos Cardíacos/metabolismo; Proteínas Repressoras/metabolismo; Pele/citologia; Pele/patologia; Sequenciamento do Exoma

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Cardiomiopatia Dilatada / Epidermólise Bolhosa Simples Limite: Adolescent / Adult / Humans / Male Idioma: En Revista: Br J Dermatol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda

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