E-resources
-
Bertola, Francesca; Filocamo, Mirella; Casati, Giorgio; Mort, Matthew; Rosano, Camillo; Tylki-Szymanska, Anna; Tüysüz, Beyhan; Gabrielli, Orazio; Grossi, Serena; Scarpa, Maurizio; Parenti, Giancarlo; Antuzzi, Daniela; Dalmau, Jaime; Rocco, Maja Di; Vici, Carlo Dionisi; Okur, Ilyas; Rosell, Jordi; Rovelli, Attilio; Furlan, Francesca; Rigoldi, Miriam; Biondi, Andrea; Cooper, David N; Parini, Rossella
Human mutation, June 2011, Volume: 32, Issue: 6Journal Article
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopolysaccharidosis type I. A total of 54 distinct mutant IDUA alleles were identified, 34 of which were novel including 12 missense mutations, 2 nonsense mutations, 12 splicing mutations, 5 micro‐deletions, 1 micro‐duplication 1 translational initiation site mutation, and 1 ‘no‐stop’ change (p.X654RextX62). Evidence for the pathological significance of all novel mutations identified was sought by means of a range of methodological approaches, including the assessment of evolutionary conservation, RT‐PCR/in vitro splicing analysis, MutPred analysis and visual inspection of the 3D‐model of the IDUA protein. Taken together, these data not only demonstrate the remarkable mutational heterogeneity characterizing type 1 mucopolysaccharidosis but also illustrate our increasing ability to make deductions pertaining to the genotype‐phenotype relationship in disorders manifesting a high degree of allelic heterogeneity. © 2011 Wiley‐Liss, Inc.
Author
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.