NAGLU mutations underlying Sanfilippo syndrome type B.

doi:10.1086/301685

Article

NAGLU mutations underlying Sanfilippo syndrome type B.

American journal of human genetics - 1 Jan 1998

Schmidtchen A, Greenberg D, Zhao H G, Li H H, Huang Y, Tieu P, Zhao H Z, Cheng S, Zhao Z, Whitley C B, Di Natale P, Neufeld E F

Abstract excerpt

Sanfilippo syndrome type B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase, one of the enzymes required for the lysosomal degradation of heparan sulfate. The gene for this enzyme, NAGLU, recently was isolated, and several m...

Topics

Acetylglucosaminidase
Animals
CHO Cells
Cell Line
Cricetinae
DNA, Complementary
Humans
Mucopolysaccharidosis III
Mutagenesis
Mutation
Oligonucleotides
Transfection

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