N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients

Author:

Acquaviva Cecile,Benoist Jean-François,Callebaut Isabelle,Guffon Nathalie,Ogier de Baulny Hélène,Touati Guy,Aydin Ahmet,Porquet Dominique,Elion Jacques

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Fenton WA, Gravel RA, Rosenblatt DS . Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds): The metabolic and molecular bases of inherited disease. 8th Ed New York: McGraw-Hill 2001 pp. 2165–2193

2. Nham SU, Wilkemeyer MF, Ledley FD . Structure of the human methylmalonyl-CoA mutase (MUT) locus Genomics 1990 8: 710–716

3. Ledley FD, Rosenblatt DS . Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations Hum Mutat 1997 9: 1–6

4. Adjalla CE, Hosack AR, Gilfix BM et al. Seven novel mutations in mut methylmalonic aciduria Hum Mutat 1998 11: 270–274

5. Heptinstall LE, Garside HJ, Till J, Walter JH, Wraith JE, Besley GTN . Mutation analysis in mutase-deficient methylmalonic aciduria. [Abstract P102] J Inher Metab Dis 1999 S1: 94

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