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Table 1 Genetic testing of Case 1 and his parents

From: Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

Gene MMACHC
Chromosomal location Chr1:45974647 Chr1:45966084
Nucleotide NM_015560. c.609(exon4)G > A NM_015560. c.80(exon1)A > G
Amino acid NM_015560. p.W203X,80(p.Trp203stop,80) NM_015560. p.Q27R(p.Gln27Arg)
Maternal genotype Wild type Heterozygous
Paternal genotype Heterozygous Wild type
Diagnosis Methylmalonic Acidemia and Homocystinuria (cblC type)
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