Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II

BACKGROUND: Glutaric aciduria type II (GA II) is an autosomal recessive disorder affecting fatty acid and amino acid metabolism. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. Till now, the clini...

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Detalles Bibliográficos
Autores principales: Xue, Ying, Zhou, Yun, Zhang, Keqin, Li, Ling, Kayoumu, Abudurexiti, Chen, Liye, Wang, Yuhui, Lu, Zhiqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615764/
https://www.ncbi.nlm.nih.gov/pubmed/28950901
http://dx.doi.org/10.1186/s12944-017-0576-5

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