Literature DB >> 26120802

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.

Ruud G L Nellen1,2, Ivo F Nagtzaam1,2, A Jeannette M Hoogeboom3, Reno S Bladergroen1, Marcel F Jonkman4, Peter M Steijlen1,2, Maurice A M van Steensel1,2,5,6, Michel van Geel1,2,5.   

Abstract

Entities:  

Keywords:  Epidermolytic ichthyosis; KRT1; keratin; palmoplantar keratoderma

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Year:  2015        PMID： 26120802     DOI： 10.1111/exd.12786

Source DB:  PubMed          Journal:  Exp Dermatol        ISSN： 0906-6705            Impact factor:   3.960


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  2 in total

1.  Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex.

Authors:  Katarzyna Osipowicz; Katarzyna Wertheim-Tysarowska; Bartłomiej Kwiek; Ewa Jankowska; Monika Gos; Agnieszka Charzewska; Katarzyna Woźniak; Cezary Kowalewski
Journal:  Postepy Dermatol Alergol       Date:  2020-09-02       Impact factor: 1.837

Review 2.  Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.

Authors:  Pablo Jesús Marín-García; Lola Llobat
Journal:  Vet Sci       Date:  2022-08-15
  2 in total

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