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.
Hattori
N
N
Department of Dermatology, Fraternity Memorial Hospital, Tokyo, Japan. hattori-tky@umin.ac.jp
Komine
M
M
Kaneko
T
T
Shimazu
K
K
Tsunemi
Y
Y
Koizumi
M
M
Goto
J
J
Hashimoto
T
T
D020816:Amino Acid Motifs; D002648:Child; D017124:Conserved Sequence; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D053530:Keratins, Type I / Q000235:genetics*; D020125:Mutation, Missense; D011110:Polymorphism, Genetic
D053530:Keratins, Type I