Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

Genetic complementation of fibroblasts from patients with methylmalonic aciduria (MMA) defines a unique class of allelic mutations arising from mutations at the locus encoding the methylmalonyl coenzyme A (CoA) mutase apoenzyme. Various phenotypes of MMA have been delineated including complete absen...

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Εκδόθηκε σε:	J Clin Invest
Κύριοι συγγραφείς:	Raff, M L, Crane, A M, Jansen, R, Ledley, F D, Rosenblatt, D S
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	American Society for Clinical Investigation 1991
Θέματα:	Research Article
Διαθέσιμο Online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295026/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1670635/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114972
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