A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans
| Autor: | Khateb, Samer, Kowalewski, Björn, Bedoni, Nicola, Damme, Markus, Pollack, Netta, Saada, Ann, Obolensky, Alexey, Ben-Yosef, Tamar, Gross, Menachem, Dierks, Thomas, Banin, Eyal, Rivolta, Carlo, Sharon, Dror |
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| Zdroj: | In Genetics in Medicine September 2018 20(9):1004-1012 |
| Databáze: | ScienceDirect |
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