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J-GLOBAL ID：201302201461163530 Reference number：13A0434024
Three novel and six common mutations in 11 patients with methylmalonic acidemia
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Author (3)：
TAKAHASHI H
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KAKINUMA H
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KOBAYASHI A
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Material：
PEDIATRICS INTERNATIONAL
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Volume：
48
Issue：
1
Page：
1-4
Publication year：
2006
JST Material Number：
O4743A
ISSN：
1328-8067
Document type：
Article
Country of issue：
Other (ZZZ)
Language：
ENGLISH (EN)
Reference (19)：
FENTON, WA. Disorders of propionate and methylmalonate metabolism. The Metabolic and Molecular Bases of Inherited Diseases. 2001, 2165-2193
LEDLEY, FD. Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am. J. Hum. Genet. 1988, 42, 839-846
NHAM, SU. Structure of the human methylmalonyl-CoA mutase (MUT) locus. Genomics. 1990, 8, 710-716
OGASAWARA, M. Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. Hum. Mol. Genet. 1994, 3, 867-872
ADJALLA, CE. Seven novel mutations in mut methylmalonic aciduria. Hum. Mutat. 1998, 11, 270-274
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