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

Autor:	Peck, Dawn1 (AUTHOR), Hall, Patricia1 (AUTHOR), Hamm, J. Austin2 (AUTHOR), Gadea, Randi3 (AUTHOR), Heese, Bryce3 (AUTHOR), Lasio, Maria Laura Duque4 (AUTHOR), Manwaring, Linda4 (AUTHOR), Pino, Gisele1 (AUTHOR), Studinski, April1 (AUTHOR), White, Amy1 (AUTHOR), Gavrilov, Dimitar1 (AUTHOR), Matern, Dietrich1 (AUTHOR), Oglesbee, Devin1 (AUTHOR), Schultz, Matthew1 (AUTHOR), Tortorelli, Silvia1 (AUTHOR)
Zdroj:	Molecular Genetics & Metabolism. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.
Databáze:	Academic Search Ultimate
Externí odkaz:	Zobrazit plný text záznamu Full Text from ScienceDirect