A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only four muta...

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Detalhes bibliográficos
Main Authors: Gutierrez, Jeydith A, Hannoush, Zeina C, Vargas, Luis G, Momany, Allison, Garcia, Carmen C, Murray, Jeffrey C, Dunnwald, Martine
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2013
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3744379/
https://ncbi.nlm.nih.gov/pubmed/23957016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.6
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