The G78D variant in IDUA – a potential hypomorphic variant not associated with severe MPS I

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Bibliographic Details
Published in:Molecular genetics and metabolism 2024-04, Vol.141 (4), p.108339, Article 108339
Main Authors: Peck, Dawn, Hall, Patricia, Hamm, J. Austin, Gadea, Randi, Heese, Bryce, Lasio, Maria Laura Duque, Manwaring, Linda, Pino, Gisele, Studinski, April, White, Amy, Gavrilov, Dimitar, Matern, Dietrich, Oglesbee, Devin, Schultz, Matthew, Tortorelli, Silvia
Format: Article
Language:English
Online Access:Get full text
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ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2024.108339