Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
Popowska
E
E
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Rathmann
M
M
Tylki-Szymanska
A
A
Bunge
S
S
Steglich
C
C
Schwinger
E
E
Gal
A
A
D000293:Adolescent; D002648:Child; D018076:DNA, Complementary / Q000235:genetics; D005838:Genotype; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D017354:Point Mutation; D011044:Poland; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D018076:DNA, Complementary; D007066:Iduronate Sulfatase