In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs

Author:

Lualdi Susanna1,Del Zotto Genny2,Zegarra-Moran Olga3,Pedemonte Nicoletta3,Corsolini Fabio1,Bruschi Maurizio4,Tomati Valeria3,Amico Giulia1,Candiano Giovanni4,Dardis Andrea5,Cooper David N.6,Filocamo Mirella1ORCID

Affiliation:

1. UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche; Istituto Giannina Gaslini; Genova Italy

2. Core Facilities; Istituto Giannina Gaslini; Genova Italy

3. UOC Genetica Medica; Istituto Giannina Gaslini; Genova Italy

4. Laboratory on Physiopathology of Uremia; Istituto Giannina Gaslini; Genova Italy

5. Regional Coordinator Centre for Rare Diseases; University Hospital Santa Maria della Misericordia; Udine Italy

6. Institute of Medical Genetics; School of Medicine; Cardiff University; Cardiff UK

Funder

Istituto Giannina Gaslini; Telethon Network of Genetic Biobanks

Cinque per mille e Ricerca Corrente, “Ministero della Salute”

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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