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Article

Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.

Journal of medical genetics - 1 Jul 2002

Goicoechea De Jorge E, Lorda I, Gallardo M E, Pérez B, Peréz De Ferrán C, Mendoza H, Rodríguez De Córdoba S

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12114497
DOI: 10.1136/jmg.39.7.e40
PMCID: PMC1735184

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Related research

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Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.PMID 12114497Read ↗

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Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.Semantic proximity Read ↗

High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.Semantic proximity Read ↗

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Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.Semantic proximity Read ↗

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