Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex.

Has, Cristina; Schumann, Hauke; Leppert, Juna; He, Yinghong; Hartmann, Britta; Hausser, Ingrid; Kohlhase, Jürgen

Has, Cristina; Schumann, Hauke; Leppert, Juna; He, Yinghong; Hartmann, Britta; Hausser, Ingrid; Kohlhase, Jürgen.

Afiliação

Has C; Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Faculty of Medicine, University of Freiburg, Frieburg, Germany. Electronic address: cristina.has@uniklinik-freiburg.de.
Schumann H; Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Faculty of Medicine, University of Freiburg, Frieburg, Germany.
Leppert J; Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Faculty of Medicine, University of Freiburg, Frieburg, Germany.
He Y; Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Faculty of Medicine, University of Freiburg, Frieburg, Germany.
Hartmann B; Centre for Human Genetics, Freiburg, Germany.
Hausser I; Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
Kohlhase J; Centre for Human Genetics, Freiburg, Germany.

J Invest Dermatol ; 137(10): 2231-2234, 2017 10.

Article em En | MEDLINE | ID: mdl-28576738

Assuntos

DNA/genética; Epidermólise Bolhosa Simples/genética; Queratina-5/genética; Deleção de Sequência; Alelos; Análise Mutacional de DNA; Feminino; Humanos; Queratina-5/metabolismo; Masculino

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA / Epidermólise Bolhosa Simples / Deleção de Sequência / Queratina-5 Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google