TY  - GEN
AU  - Farooq,Muhammad U
AU  - Balmer,Susan V
AU  - DeRoos,Steven T
AU  - Houtman,Karen L
AU  - Chillag,Kipp L
TI  - A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings
SN  - 1531-8257
PY  - 2008///1118
KW  - Child
KW  - Child, Preschool
KW  - Chorea
KW  - enzymology
KW  - Codon, Nonsense
KW  - Glycoproteins
KW  - genetics
KW  - Humans
KW  - Male
KW  - Mucopolysaccharidosis II
KW  - Phenotype
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1002/mds.22145
ER  -