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Volumn 76, Issue 3, 2014, Pages 260-262

Oculocutaneous albinism (OCA) in Colombia: First molecular screening of the TYR and OCA2 genes in South America

Author keywords

Colombia; OCA2 gene; Oculocutaneous albinism; South America; TYR gene

Indexed keywords

MONOPHENOL MONOOXYGENASE; CARRIER PROTEIN; OCA2 PROTEIN, HUMAN;

EID: 84919427478     PISSN: 09231811     EISSN: 1873569X     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2014.09.011     Document Type: Letter
Times cited : (9)

References (10)
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  • 4
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  • 5
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    • High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients
    • Roorick C., Morice-Picard F., Lasseaux E., Cailley D., Dollfus H., et al. High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients. Hum Genet 2011 2011, 129:199-208.
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  • 6
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    • An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals
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    • Sanabria, D.1    Groot, H.2    Guzman, J.3    Lattig, M.C.4
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    • Bedoya G., García J., Montoya P., Rojas W., Amézquita M.E., Soto I., et al. Isonymy analysis between 2 populations in Northwestern Colombia. Biomedica 2006, 26:538-545. [in Spanish].
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  • 8
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    • The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism
    • Oetting W.S., Pietsch J., Brott M.J., Savage S., Fryer J.P., et al. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. Am J Med Genet A 2009, 149A:466-469.
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    • A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature
    • Berson J.F., Frank D.W., Calvo P.A., Bieler B.M., Marks M.S. A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. J Biol Chem 2010, 275:12281-12289.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.