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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Hlavní autoři: Zatkova, Andrea, Sedlackova, Tatiana, Radvansky, Jan, Polakova, Helena, Nemethova, Martina, Aquaron, Robert, Dursun, Ismail, Usher, Jeannette L., Kadasi, Ludevit
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2011
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On-line přístup: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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