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

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