A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.
van Steensel
M A M
MA
Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands. mvst@sder.azm.nl
Steijlen
P M
PM
Bladergroen
R S
RS
Vermeer
M
M
van Geel
M
M
D000293:Adolescent; D000505:Alopecia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D053564:Keratins, Hair-Specific; D053531:Keratins, Type II; D020125:Mutation, Missense; D011110:Polymorphism, Genetic
C507600:KRT81 protein, human; C507602:KRT83 protein, human; C507605:KRT86 protein, human; D053564:Keratins, Hair-Specific; D053531:Keratins, Type II; D007633:Keratins