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Table 2 Comparison of the common IDUA mutations in Korea, China, and Japan

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

Country The most common mutation (a) The second common mutation (a)
Korea p.L346R (27.6 %, 8/29) c.704ins5 (13.8 %, 4/29)
Chinab p.A79V (16.7 %, 19/114) p.L346R (12.3 %, 14/114)
Japanc p.R89Q (24 %, 9/38) c.704ins5 (18 %, 7/38)
  1. a, allelic frequency; b[8]; c[9]