Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations

Alkaptonuria (AKU) is a rare autosomal recessive disorder with incidence ranging from 1:100,000 to 1:250,000. The disorder is caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD), which results from defects in the HGD gene. This enzyme converts homogentisic acid to maleylacetoace...

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Bibliografiska uppgifter
I publikationen:JIMD Rep
Huvudupphovsmän: Usher, Jeannette L., Ascher, David B., Pires, Douglas E. V., Milan, Anna M., Blundell, Tom L., Ranganath, Lakshminarayan R.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2015
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4582018/
https://ncbi.nlm.nih.gov/pubmed/25681086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_380
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