Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder that leads to a defect in fatty acid oxidation. ACADM is the only candidate gene causing MCAD deficiency. A single nucleotide change, c.985A>G, occurring at exon 11 of the ACADM gene, is the most prevalent m...

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Bibliographische Detailangaben
Veröffentlicht in:Case Rep Genet
Hauptverfasser: Drendel, Holli M., Pike, Jason E., Schumacher, Katherine, Ouyang, Karen, Wang, Jing, Stuy, Mary, Dlouhy, Stephen, Bai, Shaochun
Format: Artigo
Sprache:Inglês
Veröffentlicht: Hindawi Publishing Corporation 2015
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4700157/
https://ncbi.nlm.nih.gov/pubmed/26798524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/532090
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