Article
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Human mutation - 1 Jun 2011
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, Di Rocco Maja, Dionisi Vici Carlo, Okur Ilyas, Rosell Jordi, Rovelli Attilio, Furlan Francesca, Rigoldi Miriam, Biondi Andrea, Cooper David N, Parini Rossella
Abstract excerpt
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...
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