Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations responsible for pentosuria remained unknown. Pentosur...

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Bibliographic Details
Main Authors: Pierce, Sarah B., Spurrell, Cailyn H., Mandell, Jessica B., Lee, Ming K., Zeligson, Sharon, Bereman, Michael S., Stray, Sunday M., Fokstuen, Siv, MacCoss, Michael J., Levy-Lahad, Ephrat, King, Mary-Claire, Motulsky, Arno G.
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2011
Subjects:
Biological Sciences
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3215002/
https://ncbi.nlm.nih.gov/pubmed/22042873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1115888108
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