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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]
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BMC Medical Genetics

ISSN: 1471-2350

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