Article
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
American journal of medical genetics - 1 May 2001
Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll M J, Grinberg D, Vilageliu L
Abstract excerpt
Mucopolysaccharidosis IIIA, also known as Sanfilippo syndrome type A, is an autosomal recessive storage disorder caused by deficiency of sulfamidase. The disease results in severe central nervous system degeneration often with mild somatic features that may delay the clinical diagnosis. Molecular analyses would allow early and unequivocal heterozygote detection, providing a useful tool for genetic counselling....
Topics
- DNA Mutational Analysis
- Founder Effect
- Gene Frequency
- Genes
- Genotype
- Haplotypes
- Humans
- Hydrolases
- Mucopolysaccharidosis III
- Mutation
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Sequence Analysis, DNA
- Syndrome