dc.contributor.author | SCARPA, Maurizio | |
dc.contributor.author | FILOCAMO, Mirella | |
dc.contributor.author | CASATI, Giorgio | |
dc.contributor.author | MORT, Matthew | |
dc.contributor.author | ROSANO, Camillo | |
dc.contributor.author | TYLKI-SZYMANSKA, Anna | |
dc.contributor.author | GABRIELLI, Orazio | |
dc.contributor.author | GROSSI, Serena | |
dc.contributor.author | PARENTI, Giancarlo | |
dc.contributor.author | ANTUZZI, Daniela | |
dc.contributor.author | DALMAU, Jaime | |
dc.contributor.author | DI ROCCO, Maja | |
dc.contributor.author | VICI, Carlo Dionisi | |
dc.contributor.author | Okur, Ilyas | |
dc.contributor.author | ROSELL, Jordi | |
dc.contributor.author | ROVELLI, Attilio | |
dc.contributor.author | FURLAN, Francesca | |
dc.contributor.author | RIGOLDI, Miriam | |
dc.contributor.author | BIONDI, Andrea | |
dc.contributor.author | COOPER, David N. | |
dc.contributor.author | PARINI, Rossella | |
dc.contributor.author | BERTOLA, Francesca | |
dc.contributor.author | Tuysuz, Beyhan | |
dc.date.accessioned | 2021-03-05T13:13:34Z | |
dc.date.available | 2021-03-05T13:13:34Z | |
dc.date.issued | 2011 | |
dc.identifier.citation | BERTOLA F., FILOCAMO M., CASATI G., MORT M., ROSANO C., TYLKI-SZYMANSKA A., Tuysuz B., GABRIELLI O., GROSSI S., SCARPA M., et al., "IDUA Mutational Profiling of a Cohort of 102 European Patients with Mucopolysaccharidosis Type I: Identification and Characterization of 35 Novel alpha-L-iduronidase (IDUA) Alleles", HUMAN MUTATION, cilt.32, 2011 | |
dc.identifier.issn | 1059-7794 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_b12753d8-ba34-42ee-b731-42086fa01581 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/118036 | |
dc.identifier.uri | https://doi.org/10.1002/humu.21479 | |
dc.description.abstract | 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. (C) 2011 Wiley-Liss, Inc. | |
dc.language.iso | eng | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.title | IDUA Mutational Profiling of a Cohort of 102 European Patients with Mucopolysaccharidosis Type I: Identification and Characterization of 35 Novel alpha-L-iduronidase (IDUA) Alleles | |
dc.type | Makale | |
dc.relation.journal | HUMAN MUTATION | |
dc.contributor.department | University of Genoa , , | |
dc.identifier.volume | 32 | |
dc.identifier.issue | 6 | |
dc.contributor.firstauthorID | 9608 | |