Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants

Methylmalonic aciduria (MMA) is an autosomal recessive disorder of methylmalonate and cobalamin (cbl; vitamin B(12)) metabolism. It is an inborn error of organic acid metabolism which commonly results from a defect in the gene encoding the methylmalonyl-CoA mutase (MCM) apoenzyme. Here we report the...

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Detalles Bibliográficos
Autores principales: Ghoraba, Dina A., Mohammed, Magdy M., Zaki, Osama K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349194/
https://www.ncbi.nlm.nih.gov/pubmed/25750861
http://dx.doi.org/10.1016/j.mgene.2014.02.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349194/
https://www.ncbi.nlm.nih.gov/pubmed/25750861
http://dx.doi.org/10.1016/j.mgene.2014.02.001

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