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

J Dermatol Sci. 2014 Dec;76(3):260-2. doi: 10.1016/j.jdermsci.2014.09.011. Epub 2014 Oct 22.

Authors

Oscar Urtatiz¹, Diana Sanabria², María Claudia Lattig³

Affiliations

¹ Departamento de Ciencias Biológicas, Universidad de los Andes, Bogotá, DC, Colombia.
² Fundación Contraste - Albinos por Colombia, Bogotá, DC, Colombia.
³ Departamento de Ciencias Biológicas, Universidad de los Andes, Bogotá, DC, Colombia. Electronic address: [email protected].

PMID: 25455140
DOI: 10.1016/j.jdermsci.2014.09.011

No abstract available

Keywords: Colombia; OCA2 gene; Oculocutaneous albinism; South America; TYR gene.

Publication types

Letter

MeSH terms

Adolescent
Adult
Albinism, Oculocutaneous / enzymology
Albinism, Oculocutaneous / genetics*
Albinism, Oculocutaneous / pathology
Child, Preschool
Colombia
Female
Genetic Testing
Heterozygote
Homozygote
Humans
Infant
Male
Membrane Transport Proteins / genetics*
Middle Aged
Monophenol Monooxygenase / genetics*
Mutation
Pedigree
Phenotype
Young Adult

Substances

Membrane Transport Proteins
OCA2 protein, human
Monophenol Monooxygenase