Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

Human Mutation

Volumn 10, Issue 2, 1997, Pages 175-177

  Spritz, Richard A ^a,b   Lee, Seung Taek ^a   Fukai, Kazuyoshi ^a   Brondum Nielsen, Karen ^c   Chitayat, David ^d   Lipson, Mark H ^e   Musarella, Maria A ^d   Rosenmann, Ada ^f   Weleber, Richard G ^g  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e KAISER PERMANENTE MEDICAL CENTER   (United States)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENE PRODUCT;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HUMAN; MALE; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL;

ADULT; ALBINISM, OCULOCUTANEOUS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MUTATION;

EID: 0030790959     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X     Document Type: Article

References (9)

1. Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH (1992) The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman syndromes. Science 257:1121-1124.
2. Lee S-T, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA (1994a) Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 330:529-534.
3. Lee S-T, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, Zackai EH, Spritz RA (1994b) Diverse mutations of the P gene among African Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Molec Genet 3:2047-2051.
4. Lee S-T, Nicholls RD, Jong MTC, Fukai K, Spritz RA (1995) Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354-363.
5. Rinchik EM, Bultman SJ, Horsthemke B, Lee S-T, Strunk KM, Spritz RA, Avidano KM, Jong MTC, Nicholls RD (1993) A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72-76.
6. Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P (1992) Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. Am J Hum Genet 51:1058-1065.
7. Spritz RA (1994) Molecular genetics of oculocutaneous albinism. Hum Molec Genet 3:1469-1475.
8. Spritz RA, Fukai K, Holmes SA, Luande J (1995) Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet 56:1320-1323.
9. Spritz RA, Hearing VJ Jr. (1994) Genetic disorders of pigmentation. Adv Hum Genet 22:1-45.