𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

✍ Scribed by Anthony Olind Fedele; Mirella Filocamo; Maja Di Rocco; Giovanna Sersale; Torben Lübke; Paola di Natale; Maria Pia Cosma; Andrea Ballabio


Book ID
111700386
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
312 KB
Volume
28
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Functional analysis of the HGSNAT gene i
✍ Anthony O. Fedele; John J. Hopwood 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 343 KB

Mucopolysaccharidosis (MPS) IIIC is an autosomal recessive lysosomal storage disorder caused by a deficiency in heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT). The characteristic feature is the deterioration of the central nervous system, but other symptoms may include coarse f

Identification of 16 sulfamidase gene mu
✍ Susanna Bunge; Hüseyin Ince; Cordula Steglich; Wim J. Kleijer; Michael Beck; Jac 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB 👁 2 views

## Communicated by Jürgen Horst Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42

Molecular analysis of 40 Italian patient
✍ Mirella Filocamo; Gloria Bonuccelli; Fabio Corsolini; Raffaella Mazzotti; Robert 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 1 views

Mucopolysaccharidosis type II (MPS2, or Hunter syndrome), rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase (IDS) gene. We report here the mutational analysis of a total of 40 unrelated Italian MPS II patients ranging from mild to severe phenot

Mutations of the iduronate-2-sulfatase (
✍ Winnie Schröder; Karin Wulff; Manfred Wehnert; Günter Seidlitz; Falko H. Herrman 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 351 KB 👁 1 views

Communicated by Jurgen Horsr Genomic DNA and cDNA from fibroblasts from nine unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency showing variable clinical manifestation were screened for point mutations and small structural aberrations. Direct sequencing revealed a splice