Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

Enzymatic loss in alkaptonuria (AKU), an autosomal recessive disorder, is caused by mutations in the homogentisate 1,2 dioxygenase (HGD) gene, which decrease or completely inactivate the function of the HGD protein to metabolize homogentisic acid (HGA). AKU shows a very low prevalence (1:100,000–250...

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Hauptverfasser: Zatkova, Andrea, Sedlackova, Tatiana, Radvansky, Jan, Polakova, Helena, Nemethova, Martina, Aquaron, Robert, Dursun, Ismail, Usher, Jeannette L., Kadasi, Ludevit
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509877/
https://ncbi.nlm.nih.gov/pubmed/23430897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_68
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