文献

J-GLOBAL ID：201302201461163530   整理番号：13A0434024

Three novel and six common mutations in 11 patients with methylmalonic acidemia

著者 (3件)： TAKAHASHI H ,  KAKINUMA H ,  KOBAYASHI A
資料名： PEDIATRICS INTERNATIONAL
巻： 48  号： 1  ページ： 1-4  発行年： 2006年 
JST資料番号： O4743A  ISSN： 1328-8067  資料種別： 逐次刊行物 (A)
発行国： その他 (ZZZ)  言語： 英語 (EN)

引用文献 (19件)：

• 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