Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
Spritz
R A
RA
Department of Medical Genetics, University of Wisconsin Madison 53706, USA.
Lee
S T
ST
Fukai
K
K
Brondum-Nielsen
K
K
Chitayat
D
D
Lipson
M H
MH
Musarella
M A
MA
Rosenmann
A
A
Weleber
R G
RG
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D009154:Mutation
D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human