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Table 2 Genetic testing of Case 2 and his parents

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

Gene AMN
Chromosomal location Chr14: 103395992 Chr14: 103395855
Nucleotide NM_030943. c.761G > A NM_030943. c.742C > T
Amino acid NM_030943. p.G254E NM_030943. p.Q248*
Maternal genotype Wild type Heterozygous
Paternal genotype Heterozygous Wild type
Diagnosis Imerslund–Gräsbeck syndrome
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