New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2133.2001.04327.x/fullpdf
Reference37 articles.
1. Structure of α-keratin: Structural implication of the amino acid sequences of the type I and type II chain segments
2. Defects in the Barrier
3. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation
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