Article
The molecular basis of Sanfilippo syndrome type B.
Proceedings of the National Academy of Sciences of the United States of America - 11 Jun 1996
Zhao H G, Li H H, Bach G, Schmidtchen A, Neufeld E F
Abstract excerpt
The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase; it is characterized by profound mental deterioration in childhood and death in the second decade. For understanding the molecular genetics of the disease and for future developmen...
Topics
- Acetylglucosaminidase
- Amino Acid Sequence
- Base Sequence
- Brain
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Cloning, Molecular
- DNA, Complementary
- Humans
- Molecular Sequence Data
- Mucopolysaccharidosis III
- Mutation