Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia
Cárdenas W, Conley A, Nagar S, Núñez-Ríos D, Jordan I, Lattig M. Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia. PLOS ONE 2024, 19: e0313777. PMID: 39556609, PMCID: PMC11573203, DOI: 10.1371/journal.pone.0313777.Peer-Reviewed Original ResearchConceptsAncestral originTYR haplotypeAdmixed populationsOCA2 geneOCA patientsOCA2 mutationsOculocutaneous albinismAdmixed American populationsDisease-Associated VariantsGlobal reference populationsAutosomal recessive oculocutaneous albinismNative American admixtureDisease-causing mutationsNative American originGene mutationsRecessive conditionColonization historyGenetic architectureGenetic admixtureMendelian diseasesCompound heterozygote patientsAffected family membersAssociation mappingSephardic Jewish originRecessive alleles
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