The Mouse Iduronate Sulfatase Gene: Identification of a Novel Transcript
โ Scribed by A. Daniele; T. Russo; A. Ballabio; P. Dinatale
- Book ID
- 115573307
- Publisher
- Elsevier Science
- Year
- 1993
- Tongue
- English
- Weight
- 428 KB
- Volume
- 194
- Category
- Article
- ISSN
- 0006-291X
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Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype / p
Hunter disease, mucopolysaccharidosis type II or MPS II (OMIM \*309900) iduronate-2-sulfatase : IDS (GDB) Abbreviations amplification refractory system : ARMS, iduronate-2-sulfatase : IDS
Hunter syndrome (Mucopolysaccharidosis type II, MPS2) is an X-linked recessively inherited disease caused by a deficiency of iduronate 2 sulfatase (IDS). In this study, we investigated mutations of the IDS gene in 25 Korean Hunter syndrome patients. We identified 20 mutations, of which 13 mutations
We describe a novel type of complex genetic rearrangement in the iduronate-2-sulfatase (IDS) gene of a severely affected MPSII patient. Southern blot analysis indicated an intragenic deletion of exons 5 and 6. The deletion spans 5,581 bp. Sequencing of the deletion junctions revealed a complex rearr