Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
| Autor: | Mori, Mari, Haskell, Gloria, Kazi, Zoheb, Zhu, Xiaolin, DeArmey, Stephanie M., Goldstein, Jennifer L., Bali, Deeksha, Rehder, Catherine, Cirulli, Elizabeth T., Kishnani, Priya S. |
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| Zdroj: | In Molecular Genetics and Metabolism December 2017 122(4):189-197 |
| Databáze: | ScienceDirect |
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