Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
Whitley
C B
CB
Department of Pediatrics, University of Minnesota Medical School, Minneapolis 55455.
Anderson
R A
RA
Aronovich
E L
EL
Crotty
P L
PL
Anyane-Yeboa
K
K
Russo
D
D
Warburton
D
D
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005838:Genotype; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation
D004247:DNA; D007066:Iduronate Sulfatase