A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation.

Authors	N Hattori, M Komine, T Kaneko, K Shimazu, Y Tsunemi, M Koizumi, J Goto, T Hashimoto
Journal	The British journal of dermatology (Br J Dermatol) Vol. 155 Issue 5 Pg. 1062-3 (Nov 2006) ISSN: 0007-0963 [Print] England
PMID	17034543 (Publication Type: Case Reports, Journal Article)
Chemical References	Keratins, Type I
Topics	Amino Acid Motifs Child Conserved Sequence Epidermolysis Bullosa Simplex (genetics, pathology) Female Humans Keratins, Type I (genetics) Mutation, Missense Polymorphism, Genetic

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