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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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Sudo, Yosuke, Sasaki, Ayako, Wakabayashi, Takashi, Numakura, Chikahiko, Hayasaka, Kiyoshi
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
Matèries:
Data Report
Accés en línia: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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