title: Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
authors.affiliation: Departamento de Ciencias Biológicas, Universidad de los Andes, Bogotá, DC, Colombia.
authors.forename: Oscar
authors.initials: O
authors.lastname: Urtatiz
authors.affiliation: Fundación Contraste - Albinos por Colombia, Bogotá, DC, Colombia.
authors.forename: Diana
authors.initials: D
authors.lastname: Sanabria
authors.affiliation: Departamento de Ciencias Biológicas, Universidad de los Andes, Bogotá, DC, Colombia. Electronic address: mlattig@uniandes.edu.co.
authors.forename: María Claudia
authors.initials: MC
authors.lastname: Lattig
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D003105:Colombia; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D014442:Monophenol Monooxygenase
keywords: Colombia; OCA2 gene; Oculocutaneous albinism; South America; TYR gene