title: Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
authors.affiliation: Department of Medical Genetics, University of Wisconsin Madison 53706, USA.
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
authors.forename: S T
authors.initials: ST
authors.lastname: Lee
authors.forename: K
authors.initials: K
authors.lastname: Fukai
authors.forename: K
authors.initials: K
authors.lastname: Brondum-Nielsen
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: M H
authors.initials: MH
authors.lastname: Lipson
authors.forename: M A
authors.initials: MA
authors.lastname: Musarella
authors.forename: A
authors.initials: A
authors.lastname: Rosenmann
authors.forename: R G
authors.initials: RG
authors.lastname: Weleber
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human