A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)

Journal of Dermatological Science

Volumn 31, Issue 3, 2003, Pages 189-192

  Kato, Atsushi ^a   Fukai, Kazuyoshi ^a   Oiso, Naoki ^a   Hosomi, Naoko ^a   Saitoh, Shinji ^b   Wada, Takahito ^b   Shimizu, Hiroshi ^b   Ishii, Masamitsu ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Mutation; Oculocutaneous albinism; P gene

Indexed keywords

GENOMIC DNA; MONOPHENOL MONOOXYGENASE; SPHINGOLIPID ACTIVATOR PROTEIN 2;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DNA FLANKING REGION; DNA POLYMORPHISM; DNA SEQUENCE; EXON; FEMALE; GENE; GENE SEQUENCE; HUMAN; INTRON; JAPAN; LEUKOCYTE; MISSENSE MUTATION; OCULOCUTANEOUS ALBINISM; OCULOCUTANEOUS ALBINISM TYPE 2; P GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS;

EID: 0037406372     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0923-1811(03)00005-7     Document Type: Article

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