Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review.

Liu, Xiaoliang; Qiu, Chuang; He, Rong; Zhang, Yuanyuan; Zhao, Yanyan

Liu, Xiaoliang; Qiu, Chuang; He, Rong; Zhang, Yuanyuan; Zhao, Yanyan.

Afiliación

Liu X; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, China.
Qiu C; Department of Orthopaedics, Shengjing Hospital of China Medical University, Shenyang, China.
He R; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, China.
Zhang Y; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, China.
Zhao Y; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, China.

Mol Genet Genomic Med ; 7(11): e977, 2019 11.

Article en En | MEDLINE | ID: mdl-31525823

Asunto(s)

Pueblo Asiatico/genética; Queratina-9/genética; Queratodermia Palmoplantar Epidermolítica/genética; Queratodermia Palmoplantar Epidermolítica/patología; Mutación; Estudios de Casos y Controles; Femenino; Estudios de Seguimiento; Heterocigoto; Humanos; Lactante; Masculino; Linaje

Palabras clave

EPPK; KRT9; cytokeratin; intermediate filament; mutation

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pueblo Asiatico / Queratodermia Palmoplantar Epidermolítica / Queratina-9 / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google