title: Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.
authors.affiliation: Department of Medical Photobiology, Photon Medical Research Center, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Ohtsubo
authors.forename: Miho
authors.initials: M
authors.lastname: Sato
authors.forename: Akiko
authors.initials: A
authors.lastname: Hikoya
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Hosono
authors.forename: Shinsei
authors.initials: S
authors.lastname: Minoshima
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Hotta
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D044466:Asian People; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins