A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.
Muhammad U
MU
Farooq
Susan V
SV
Balmer
Steven T
ST
DeRoos
Karen L
KL
Houtman
Kipp L
KL
Chillag
D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000201:enzymology / Q000235:genetics*; D018389:Codon, Nonsense; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype
D018389:Codon, Nonsense; D006023:Glycoproteins; C018322:IDS protein, human