Abstract
A large deletion in the iduronate-2-sulfatase (IDS) gene has been found in a patient affected by an intermediate form of Hunter syndrome (mucopolysaccharidosis II). The deletion involves exons 2-4, the breakpoints lying respectively in intron 1, at position 376, and in intron 4, at position 5725. cDNA analysis revealed a direct exon 1-exon 5 junction due to the deletion resulting in a frameshift mutation.
Original language | English |
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Pages (from-to) | 474-477 |
Number of pages | 4 |
Journal | Clinical Genetics |
Volume | 53 |
Issue number | 6 |
Publication status | Published - Jun 1998 |
Keywords
- Deletion
- Hunter syndrome
- Iduronate-2-sulfatase
- Mutation analysis
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)