A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix.
Winter
H
H
German Cancer Research Center, Heidelberg, Germany. m.rogers@dkfz-heidelberg.de
Vabres
P
P
Larrègue
M
M
Rogers
M A
MA
Schweizer
J
J
D000409:Alanine / Q000235:genetics; D020816:Amino Acid Motifs; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital / Q000235:genetics*; D007223:Infant; D007633:Keratins / Q000235:genetics*; D007642:Keratosis / Q000151:congenital / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
D018698:Glutamic Acid; D007633:Keratins; D000409:Alanine