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Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe

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Abbreviations

MCM :

methylmalonyl-CoA-mutase

MMA :

methylmalonic acidaemia

References

  1. 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

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  2. 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

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  3. 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

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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

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  • DOI: https://doi.org/10.1007/BF01983416

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