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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Detalhes bibliográficos
Main Authors: Zatková, Andrea, de Bernabé, Daniel Beltrán Valero, Poláková, Helena, Zvarík, Marek, Feráková, Eva, Bošák, Vladimir, Ferák, Vladimír, Kádasi, L'udovít, de Córdoba , Santiago Rodríguez
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288576/
https://ncbi.nlm.nih.gov/pubmed/11017803
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