Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

While screening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found three healthy children who excreted abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid, a pattern consistent with glutaric aciduria type 3 (GA3). None of these children had th...

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Main Authors: Sherman, Eric A., Strauss, Kevin A., Tortorelli, Silvia, Bennett, Michael J., Knerr, Ina, Morton, D. Holmes, Puffenberger, Erik G.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2008
Teme:
Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668038/
https://ncbi.nlm.nih.gov/pubmed/18926513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.09.018
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