Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis-Reference-Cited by-同舟云学术

Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis

Published:2018-12-04 Issue:1 Volume:36 Page:132-138
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Lalor Leah¹^ORCID,Titeux Matthias²³,Palisson Francis⁴⁵,Fuentes Ignacia⁴⁶,Yubero María J.⁴⁵,Tasanen Kaisa⁷,Huilaja Laura⁷,Has Cristina⁸,Tadini Gianluca⁹^ORCID,Haggstrom Anita N.¹⁰^ORCID,Hovnanian Alain²³,Lucky Anne W.¹¹^ORCID

Affiliation:

1. Division of Pediatric Dermatology MCW Department of Dermatology Milwaukee Wisconsin

2. Laboratory of Genetic Skin Diseases Inserm UMR1163 Imagine Institute Paris France

3. University Paris Descartes ‐ Sorbonne Paris Cite Paris France

4. Fundacion DEBRA Chile Santiago Chile

5. Facultad de Medicina Clinica Alemana Universidad del Desarrollo Santiago Chile

6. Centro de Genetica y Genomica Facultad de Medicina Clinica Alemana Universidad del Desarrollo Santiago Chile

7. Department of Dermatology Pedego Research Unit Oulu Center for Cell‐Matrix Research MRC Oulu University of Oulu and Oulu University Hospital Oulu Finland

8. Department of Dermatology Medical Center ‐ University of Freiburg Freiburg Germany

9. Pediatric Dermatology Fondazione IRCC Ca'Granda ‐ Ospedale Maggiore Policlinico di Milano Milan Italy

10. Department of Dermatology and Pediatrics Indiana University Indianapolis Indiana

11. Epidermolysis Bullosa Center Cincinnati Children's Hospital Medical Center Cincinnati Ohio

Funder

Fondo Nacional de Desarrollo Científico y Tecnológico

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.13722

Reference43 articles.

1. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients

2. THE CYTOSKELETON AND DISEASE: Genetic Disorders of Intermediate Filaments

3. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

4. The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases

5. The ‘ins’ and ‘outs’ of intermediate filament organization

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