Article
Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.
PloS one - 1 Jan 2024
Cárdenas Wilmer A, Conley Andrew B, Nagar Shashwat Deepali, Núñez-Ríos Diana L, Jordan I King, Lattig María Claudia
Abstract excerpt
Autosomal recessive conditions are often associated with homozygous mutations showing common ancestral origins and are frequently linked to consanguinity. However, an increasing number of compound heterozygotes are found in diverse, admixed populations. Oculocutaneous albinism (OCA) is a recessive condition caused mainly by mutations in the TYR and OCA2 genes involved in skin pigmentation. We previously screened...
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