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 |
|---|---|
| Pages (from-to) | 474-477 |
| Number of pages | 4 |
| Journal | Clinical Genetics |
| Volume | 53 |
| Issue number | 6 |
| Publication status | Published - Jun 1998 |
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Keywords
- Deletion
- Hunter syndrome
- Iduronate-2-sulfatase
- Mutation analysis
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome. / Bonuccelli, Gloria; Regis, Stefano; Filocamo, Mirella; Corsolini, Fabio; Caroli, Francesco; Gatti, Rosanna.
In: Clinical Genetics, Vol. 53, No. 6, 06.1998, p. 474-477.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome
AU - Bonuccelli, Gloria
AU - Regis, Stefano
AU - Filocamo, Mirella
AU - Corsolini, Fabio
AU - Caroli, Francesco
AU - Gatti, Rosanna
PY - 1998/6
Y1 - 1998/6
N2 - 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.
AB - 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.
KW - Deletion
KW - Hunter syndrome
KW - Iduronate-2-sulfatase
KW - Mutation analysis
UR - http://www.scopus.com/inward/record.url?scp=0031818391&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031818391&partnerID=8YFLogxK
M3 - Article
C2 - 9712538
AN - SCOPUS:0031818391
VL - 53
SP - 474
EP - 477
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 6
ER -