Abbreviations
- MCM :
-
methylmalonyl-CoA-mutase
- MMA :
-
methylmalonic acidaemia
References
Crane AM, Ledley FD (1992) Clustering of mutations causing Mut negative methylmalonic acidemia MMA within the methylmalonyl CoA mutase MCM locus. Am J Hum Genet 51:[Suppl] A167
Ledley FD, Crane AM, Lumetta M (1990) Heterogeneous alleles and expression of methylmalonyl CoA mutase in methylmalonic acidemia. Am J Hum Genet 46:539–547
Ledley FD, Lumetta M, Nguyen PN, Kolhouse JF, Allen RH (1988) Molecular cloning ofl-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines. Proc Natl Acad Sci USA 85:3518–3521
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bender, C., Büchler, A., Baumgartner, R. et al. Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe. Eur J Pediatr 153, 468 (1994). https://doi.org/10.1007/BF01983416
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01983416