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Table 1 Summary of discovered mutations in DBH gene (extracted from

From: Dopamine beta-hydroxylase deficiency

Nucleotide change Location Amino acid change Mutation type
C-1021T 5' flanking   Noncoding
G259A Exon 1 V87M Missense
IVS1+2T→C Intron 1   Noncoding
C300A Exon 2 D100E Missense
IVS3+8C→T Intron 3   Noncoding
G991A Exon 6 D331N Missense
IVS10+415A0→G Intron 10   Noncoding