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• 关键词：MMACHC ; cblC ; Methylmalonic aciduria and homocystinuria ; MTHFR ; Vitamin B₁₂
• 刊名：Journal of Computational and Applied Mathematics
• 出版年：2008
• 期刊代码：72_03770427
• 类别：cp
• 出版时间：1 July 2008
• 卷：216
• 期：2
• 页码：600-601
• 文件大小：155 K

摘要

Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B₁₂. The recent identification of the disease gene, MMACHC, has permitted preliminary genotype–phenotype correlations.