Author:
Sakamoto Osamu,Ohura Toshihiro,Matsubara Yoichi,Takayanagi Masaki,Tsuchiya Shigeru
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference22 articles.
1. Acquaviva C, Benoist J-F, Callebaut I, Guffon N, Ogier de Baulny H, Touati G, Aydin A, Porquet D, Elion J (2001) N219Y, a new frequent mutation among mut0 forms of methylmalonic acidemia in Caucasian patients. Eur J Hum Genet 9:577–582
2. Acquaviva C, Benoist J-F, Perwira S, Callebaut I, Koskas T, Porquet D, Elion J (2005) Molecular basis of methylmalonyl CoA mutase apoenzyme defect in 40 European patients affected by mut0 and mut− forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum Mutat 25:167–176
3. Adjalla CE, Hosack AR, Matiaszuk NV, Rosenblatt DS (1998) A common mutation among blacks with mut
− methylmalonic aciduria. Hum Mutat S1:S248–S250
4. Cheadle JP, Belloni E, Ferrari M, Millar-Jones L, Meredith AL (1994) A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Hum Mol Genet 3:1431–1432
5. Fenton WA, Gravel RA, Rosenblatt DS (2001) Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 2165–2193
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