Functional analysis and clinical curation of human acid alpha glucosidase (GAA) variants of unknown significance (VUS) screened from infants diagnosed with Pompe disease via newborn screening (NBS)
| Autor: | Goomber, Shelly, Yi, Haiqing, Austin, Stephanie, Rehder, Catherine, Crawford, Gregory, Bali, Deeksha Sarihyan, Kishnani, Priya |
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| Zdroj: | In Molecular Genetics and Metabolism February 2021 132(2):S45-S45 |
| Databáze: | ScienceDirect |
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