Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
Spritz
R A
RA
Department of Genetics, University of Wisconsin, Madison 53706, USA.
Oh
J
J
Fukai
K
K
Holmes
S A
SA
Ho
L
L
Chitayat
D
D
France
T D
TD
Musarella
M A
MA
Orlow
S J
SJ
Schnur
R E
RE
Weleber
R G
RG
Levin
A V
AV
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation
D014442:Monophenol Monooxygenase