Article
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
American journal of human genetics - 1 Mar 1995
Jonsson J J, Aronovich E L, Braun S E, Whitley C B
Abstract excerpt
Virtually all mutations causing Hunter syndrome (mucopolysaccharidosis type II) are expected to be new mutations. Therefore, as a means of molecular diagnosis, we developed a rapid method to sequence the entire iduronate-2-sulfatase (IDS) coding region. PCR amplicons representing the IDS cDNA wer...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- DNA Mutational Analysis
- Electronic Data Processing
- Humans
- Iduronate Sulfatase
- Molecular Sequence Data
- Mucopolysaccharidosis II
- Mutation
- Polymerase Chain Reaction
- Sequence Analysis, DNA