First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria

Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumulation of peripheral homogentisic acid and molecularly by the presence of mutations in the homogentisate 1,2-dioxygenase gene (HGD). Alkaptonuria is invariably associated with HGD mutations, which cons...

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Detalles Bibliográficos
Autores principales: Habbal, Mohammad Zouheir, Bou-Assi, Tarek, Zhu, Jun, Owen, Renius, Chehab, Farid F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169433/
https://www.ncbi.nlm.nih.gov/pubmed/25233259
http://dx.doi.org/10.1371/journal.pone.0106948

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169433/
https://www.ncbi.nlm.nih.gov/pubmed/25233259
http://dx.doi.org/10.1371/journal.pone.0106948

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