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Table 1 Clinical phenotypes and genotypes in 17 unrelated Korean MPS I patients

From: 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

Pt. Phenotype Allele 1 Allele 2 Ref.
1 H c.613_617dup (p.E207Afs*29) c.683delC (p.P228Hfs*6) This report
2 H-S c.1163C>A (p.T388K) c.1163C>A (p.T388K) This report
3 H-S c.613_617dup (p.E207Afs*29) c.1591delC (p.R531Gfs*29) This report
4 H-S c.236C>T (p.A79V) c.1882C>T (p.R628*) This report
5 H-S c.972+1G>A c.1730G>A (p.C577Y) This report
6 H-S c.1487C>G (p.P496R) c.1854C>A (p.Y618*) This report
7 S c.1037T>G (p.L346R) c.1037T>G (p.L346R) This report
8 H ? c.1037T>G (p.L346R) Ref#6
9 H c.704ins5 (p.W235Cfs*84) c.1037T>G (p.L346R) Ref#6
10 H c.704ins5 (p.W235Cfs*84) c.1854C>A (p.Y618*) Ref#6
11 H c.704ins5 (p.W235Cfs*84) c.1037T>G (p.L346R) Ref#6
12 H c.704ins5 (p.W235Cfs*84) c.1037T>G (p.L346R) Ref#6
13 H ? c. 193delT Ref#6
14 H-S ? c.1037T>G (p.L346R) Ref#6
15 H-S ? c.1037T>G (p.L346R) Ref#6
16 S ? c.683C>A (p.P228Q) Ref#6
17 S c.265C>T (p.A89W) c.1601C>A (p.S534*) Ref#6
  1. H Hurler syndrome, H-S Hurler-Scheie syndrome, S Scheie syndrome, Pt. patient, Ref. reference; Novel mutations are in bold., ? not yet detected