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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Bibliografiske detaljer
Main Authors: Gutierrez, Jeydith A, Hannoush, Zeina C, Vargas, Luis G, Momany, Allison, Garcia, Carmen C, Murray, Jeffrey C, Dunnwald, Martine
Format: Artigo
Sprog:Inglês
Udgivet: Blackwell Publishing Ltd 2013
Fag:
Clinical Reports
Online adgang: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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