P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome.
Garrison
N A
NA
Department of Pediatrics, College of Medicine, University of Arizona, Tucson, AZ 85724, USA.
Yi
Z
Z
Cohen-Barak
O
O
Huizing
M
M
Hartnell
L M
LM
Gahl
W A
WA
Brilliant
M H
MH
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D000483:Alleles; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation
D004247:DNA; D014442:Monophenol Monooxygenase