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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”

Fig. 1

Part of IDUA cDNA sequence obtained from Ensembl (www.ensembl.org, RefSeq NM_000203) highlighting mutation 704ins5/ c.613_617dupTGCTC. 1- Number refers to the nucleotide position considering number 1 as first nucleotide of cDNA (c.-88). 2- Number refers to the nucleotide position considering number 1 as the A from the first ATG (c.1). 3- Number refers to amino acid position considering number 1 as the first Methionine (p.M1). Black bold: positions 704 and 613_617 in line 1 and 2, respectively. Red: nucleotides inserted according to Yamagishi et al., 1996, when first describing mutation 704ins5. Blue: nucleotides duplicated in mutation c.613_617dupTGCTC. Both result in same nucleotide alteration, but were presented with different nomenclatures

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BMC Medical Genetics

ISSN: 1471-2350

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