Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Reference67 articles.
1. Peters HL, Nefedov M, Lee LW et al (2002) Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. Hum Mutat 20:406
2. Acquaviva C, Benoist JF, Pereira S et al (2005) Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum Mutat 25:167–176
3. Martinez MA, Rincon A, Desviat LR, Merinero B, Ugarte M, Perez B (2005) Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Mol Genet Metab 84:317–325
4. Rosenblatt DS, Fenton WA (2001) Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3897–3933
5. Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F (2000) mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. Hum Mutat 16:179
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