A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic
| Autor: | Enomoto, Yutaka, Namba, Yukiko, Hoshika, Yoshihito, Komemushi, Yoshimitsu, Mitani, Keiko, Kume, Haruki, Kobayashi, Etsuko, Miyama, Yu, Homma, Yukio, Ushiku, Tetsuo, Seyama, Kuniaki |
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| Zdroj: | In European Journal of Medical Genetics April 2020 63(4) |
| Databáze: | ScienceDirect |
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