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A novel ETFB mutation in a patient with glutaric aciduria type II
Glutaric aciduria type II (GAII) is a rare inborn error of metabolism clinically classified into a neonatal-onset form with congenital anomalies, a neonatal-onset form without congenital anomalies and a mild and/or late-onset form (MIM #231680). Here, we report on a GAII patient carrying a homozygou...
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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785565/ https://ncbi.nlm.nih.gov/pubmed/27081516 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.16 |
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