Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Molecular Genetics and Metabolism（2008）
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.
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关键词
MMACHC,cblC,Methylmalonic aciduria and homocystinuria,MTHFR,Vitamin B12
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