Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis.

Takemoto, Keita; Makino, Teruhiko; Mizawa, Megumi; Kubo, Yoshiaki; Shimizu, Tadamichi

Takemoto, Keita; Makino, Teruhiko; Mizawa, Megumi; Kubo, Yoshiaki; Shimizu, Tadamichi.

Afiliación

Takemoto K; Department of Dermatology, Graduate School of Medicine and Pharmaceutical sciences, University of Toyama, Toyama.
Makino T; Department of Dermatology, Graduate School of Medicine and Pharmaceutical sciences, University of Toyama, Toyama.
Mizawa M; Department of Dermatology, Graduate School of Medicine and Pharmaceutical sciences, University of Toyama, Toyama.
Kubo Y; Department of Dermatology, Tokushima University Graduate School of Medical Science, Tokushima, Japan.
Shimizu T; Department of Dermatology, Graduate School of Medicine and Pharmaceutical sciences, University of Toyama, Toyama.

Eur J Dermatol ; 29(2): 227-228, 2019 04 01.

Article en En | MEDLINE | ID: mdl-31106763

Asunto(s)

Hiperqueratosis Epidermolítica/genética; Queratina-10/genética; Adulto; Femenino; Pruebas Genéticas; Humanos; Hiperqueratosis Epidermolítica/diagnóstico; Mutación; Índice de Severidad de la Enfermedad

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperqueratosis Epidermolítica / Queratina-10 Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Eur J Dermatol Asunto de la revista: DERMATOLOGIA Año: 2019 Tipo del documento: Article

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