Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

Article

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

Journal of medical genetics - 1 Jan 1999

Bunge S, Knigge A, Steglich C, Kleijer W J, van Diggelen O P, Beck M, Gal A

Abstract excerpt

Mucopolysaccharidosis type IIIB (MPS IIIB or Sanfilippo B disease) is an autosomal recessive storage disorder caused by deficiency of the lysosomal enzyme a-N-acetylglucosaminidase. Mutation screening was performed on a group of 22 patients using a combination of SSCP/heteroduplex analysis of amp...

Topics

Acetylglucosaminidase
DNA Mutational Analysis
DNA Primers
Fibroblasts
Genetic Variation
Humans
Hydrolases
Mucopolysaccharidosis III
Mutation, Missense
Point Mutation

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