Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families.
Korge
B P
BP
Dept of Dermatology, Univ. of Köln, Germany.
Healy
E
E
Traupe
H
H
Pünter
C
C
Mauch
C
C
Hamm
H
H
Birch-Machin
M A
MA
Belgaid
C E
CE
Stephenson
A M
AM
Holmes
S C
SC
Darlington
S
S
Messenger
A G
AG
Rees
J L
JL
Munro
C S
CS
D000505:Alopecia / Q000235:genetics*; D006197:Hair / Q000378:metabolism*; D006801:Humans; D007633:Keratins / Q000235:genetics*; D017354:Point Mutation / Q000502:physiology*
D007633:Keratins