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http://purl.uniprot.org/citations/7874125http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/7874125http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/7874125http://www.w3.org/2000/01/rdf-schema#comment"Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which we have shown results from mutations of the P gene in Caucasians, is the most prevalent type of oculocutaneous albinism in African and African-American patients with OCA. We have identified abnormalities of the P gene in seven unrelated African-American patients with OCA2, including three large deletions, two small in-frame deletions, and six different point mutations. None of these appears to be predominant among African-American patients with OCA2."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Zackai E.H."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Zackai E.H."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Nicholls R.D."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Nicholls R.D."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Schnur R.E."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Schnur R.E."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Spritz R.A."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Spritz R.A."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Spinner N.B."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Spinner N.B."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Lee S.-T."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Lee S.-T."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Guida L.C."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Guida L.C."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Lu-Kuo J."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/author"Lu-Kuo J."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/date"1994"xsd:gYear
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/date"1994"xsd:gYear
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/name"Hum. Mol. Genet."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/name"Hum. Mol. Genet."xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/pages"2047-2051"xsd:string
http://purl.uniprot.org/citations/7874125http://purl.uniprot.org/core/pages"2047-2051"xsd:string