A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.
Farooq, Muhammad U
A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings. [electronic resource] - Movement disorders : official journal of the Movement Disorder Society Jul 2008 - 1487-8 p. digital
Publication Type: Case Reports; Letter
1531-8257
10.1002/mds.22145 doi
Child
Child, Preschool
Chorea--enzymology
Codon, Nonsense
Glycoproteins--genetics
Humans
Male
Mucopolysaccharidosis II--enzymology
Phenotype
A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings. [electronic resource] - Movement disorders : official journal of the Movement Disorder Society Jul 2008 - 1487-8 p. digital
Publication Type: Case Reports; Letter
1531-8257
10.1002/mds.22145 doi
Child
Child, Preschool
Chorea--enzymology
Codon, Nonsense
Glycoproteins--genetics
Humans
Male
Mucopolysaccharidosis II--enzymology
Phenotype