Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2010.10096.x/fullpdf
Reference29 articles.
1. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009;Oji;J Am Acad Dermatol,2010
2. The molecular basis of human keratin disorders;Arin;Hum Genet,2009
3. Phenotypes, genotypes and their contribution to understanding keratin function;Porter;Trends Genet,2003
4. A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis;Bolling;Br J Dermatol,2010
5. An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1;Kremer;J Invest Dermatol,1998
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