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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Case Rep Genet
Autors principals: Drendel, Holli M., Pike, Jason E., Schumacher, Katherine, Ouyang, Karen, Wang, Jing, Stuy, Mary, Dlouhy, Stephen, Bai, Shaochun
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2015
Matèries:
Case Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars