Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe.
作者信息
Bender C, Büchler A, Baumgartner R, Konecki D S, Trefz F K
出版信息
Eur J Pediatr. 1994 Jun;153(6):468. doi: 10.1007/BF01983416.
PMID:7916290
Abstract
摘要
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本文引用的文献
1
Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.L-甲基丙二酰辅酶A变位酶的分子克隆：基因转移及突变细胞系分析
Proc Natl Acad Sci U S A. 1988 May;85(10):3518-21. doi: 10.1073/pnas.85.10.3518.
2
Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.甲基丙二酸血症中甲基丙二酰辅酶A变位酶的异质等位基因与表达
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