High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO) activity. AKU shows a very low prevalence (1:100,000–250,000) in most ethnic groups. One notable exception is in Slovakia, where the incidence of AKU rises to 1:19,000. This high inc...

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Bibliografische gegevens
Hoofdauteurs: Zatková, Andrea, de Bernabé, Daniel Beltrán Valero, Poláková, Helena, Zvarík, Marek, Feráková, Eva, Bošák, Vladimir, Ferák, Vladimír, Kádasi, L'udovít, de Córdoba , Santiago Rodríguez
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2000
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Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288576/
https://ncbi.nlm.nih.gov/pubmed/11017803
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