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The G78D variant in IDUA – a potential hypomorphic variant ..:
Peck, Dawn
;
Hall, Patricia
;
Hamm, J. Austin
...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108339 , 2024
Link:
https://doi.org/10.1016/j.ymgme.2024.108339
RT Journal T1
The G78D variant in IDUA – a potential hypomorphic variant not associated with severe MPS I
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ymgme.2024.108339&Exemplar=1&LAN=DE A1 Peck, Dawn A1 Hall, Patricia A1 Hamm, J. Austin A1 Gadea, Randi A1 Heese, Bryce A1 Lasio, Maria Laura Duque A1 Manwaring, Linda A1 Pino, Gisele A1 Studinski, April A1 White, Amy A1 Gavrilov, Dimitar A1 Matern, Dietrich A1 Oglesbee, Devin A1 Schultz, Matthew A1 Tortorelli, Silvia PB Elsevier BV YR 2024 SN 1096-7192 JF Molecular Genetics and Metabolism VO 141 IS 4 SP 108339 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgme.2024.108339 DO https://doi.org/10.1016/j.ymgme.2024.108339 SF ELIB - SuUB Bremen
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