Article
Analysis of Sanfilippo A gene mutations in a large pedigree.
Clinical genetics - 1 Apr 2003
Di Natale P, Villani G R D, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A
Abstract excerpt
Mucopolysaccharidosis type IIIA, also known as Sanfilippo A disease, results from mutations in the sulfamidase gene. To date, a total of 62 mutations have been described underlying this lysosomal disorder. Expression studies on missense mutations have shown that each alteration was disease-causing and helped to clarify the genotype-phenotype correlation. In this report we describe a large pedigree where the...
Topics
- Adolescent
- Child, Preschool
- Humans
- Italy
- Male
- Mucopolysaccharidosis III
- Mutation
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Sequence Analysis, DNA