Two novel mutations detected in Japanese patients with oculocutaneous albinism

Journal of Dermatological Science

Volumn 44, Issue 2, 2006, Pages 116-118

  Ito, Shiro ^a   Suzuki, Tamio ^a   Inagaki, Katsuhiko ^a   Suzuki, Noriyuki ^a   Kono, Michihiro ^a   Tomita, Yasushi ^a   Iwamoto, Takao ^b   Mochizuki, Narutaka ^c  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Akiru Municipal General Hospital   (Japan)

^c SAKAI MUNICIPAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MELANIN;

CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; LETTER; MALE; MELANOGENESIS; MUTATIONAL ANALYSIS; OCULOCUTANEOUS ALBINISM; P GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; TYR GENE;

ALBINISM, OCULOCUTANEOUS; ASIAN CONTINENTAL ANCESTRY GROUP; DNA; FEMALE; HUMANS; INFANT; JAPAN; MALE; MEMBRANE TRANSPORT PROTEINS; MONOPHENOL MONOOXYGENASE; MUTATION;

EID: 33749331656     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2006.07.006     Document Type: Letter

References (8)

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5. Tomita Y., Takeda A., Okinaga S., Tagami H., and Shibahara S. Human oculocutaneous albinism caused by a single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 164 (1989) 990-996
6. Sviderskaya E.V., Bennett D.C., Ho L., Bailin T., Lee S.T., and Spritz R.A. Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. J Invest Dermatol 108 (1997) 30-34
7. Suzuki T., Miyamura Y., Matsunaga J., Shimizu H., Kawachi Y., Ohyama N., et al. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. J Invest Dermatol 120 (2003) 781-783
8. Suzuki T., Miyamura Y., and Tomita Y. High frequency of the Ala481Thr mutation of the P gene in the Japanese population. Am J Med Genet A 18 (2003) 402-403