Article
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
Human mutation - 1 Jan 1998
Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll M J, Chabás A, Grinberg D
Abstract excerpt
The gene resposible for Sanfilippo syndrome type A, a lysosomal disorder caused by deficiency of sulfamidase, was recently cloned and more than 40 mutations were identified. This paper presents the mutation analysis and clinical findings in 11 Spanish patients in whom 19 of the 22 mutant alleles...
Topics
- Adolescent
- Child
- Child, Preschool
- DNA Mutational Analysis
- Founder Effect
- Genes
- Haplotypes
- Humans
- Hydrolases
- Mucopolysaccharidosis III
- Mutation
- Polymorphism, Single-Stranded Conformational
- Sequence Deletion
- Spain