Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations. Issue 3 (March 2015)

• Record Type: Journal Article
• Authors: Caciotti, Anna; Tonin, Rodolfo; Rigoldi, Miriam; Ferri, Lorenzo; Catarzi, Serena; Cavicchi, Catia; Procopio, Elena; Donati, Maria Alice; Ficcadenti, Anna; Fiumara, Agata; Barone, Rita; Garavelli, Livia; Rocco, Maja Di; Filocamo, Mirella; Antuzzi, Daniela; Scarpa, Maurizio; Mooney, Sean D.; Li, Biao; Skouma, Anastasia; Bianca, Sebastiano; Concolino, Daniela; Casalone, Rosario; Monti, Elena; Pantaleo, Marilena; Giglio, Sabrina; Guerrini, Renzo; Parini, Rossella; Morrone, Amelia
• Is Part Of: Human mutation. Volume 36:Issue 3(2015:Mar.)
• Page Start: 357
• Page End: 368
• Publication Date: 2015-03
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22751
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22751-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We estabilished an array of techniques (QF‐PCR, CNV and CGH arrays): for the correct evaluation of MPS IVA patients' allelic composition, in order to achieve a diagnostic alogorithm to be used in the molecular analysis of MPS IVA syndrome: We characterised new identified mutations as a prerequisite to understanding the disease's natural progression in light of he incomming Enzyme Replacement Therapy for MPS IVA syndrome. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjb80x975" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>