Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene.
Terheyden
Patrick
P
Grimberg
Gundula
G
Hausser
Ingrid
I
Rose
Christian
C
Korge
Bernhard P
BP
Krieg
Thomas
T
Arin
Meral J
MJ
D018389:Codon, Nonsense; D005192:Family Health; D005808:Genes, Recessive; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D053550:Keratin-10 / Q000235:genetics*
D018389:Codon, Nonsense; C507493:KRT10 protein, human; D053550:Keratin-10