Article
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.
Molecular genetics and metabolism - 1 Oct 1998
Voskoboeva E Y, Krasnopolskaya X D, Mirenburg T V, Weber B, Hopwood J J
Abstract excerpt
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of the lysosomal protein alpha-l-iduronidase (IDUA). Patients present within a broad spectrum of phenotypes from severe (Hurler syndrome) to clinically less severe (Scheie syndrom...
Topics
- Alleles
- Base Sequence
- Commonwealth of Independent States
- DNA Primers
- Gene Frequency
- Genotype
- Heterozygote
- Homozygote
- Humans
- Iduronidase
- Molecular Biology
- Mucopolysaccharidosis I
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational