Mutational analysis of the alpha-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations.
Lee
I J
IJ
Hwang
S H
SH
Jeon
B H
BH
Song
S M
SM
Kim
J S
JS
Paik
K H
KH
Kwon
E K
EK
Jin
D-K
DK
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D007068:Iduronidase / Q000172:deficiency / Q000235:genetics*; D007723:Korea; D008059:Mucopolysaccharidosis I / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
D007068:Iduronidase