A case of Birt-Hogg-Dubé syndrome implying reduced or no...

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European Journal of Medical Genetics 2019 / 11

A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic

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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Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2019.103820
Date:
November, 2019
File:
PDF, 1.26 MB
2019
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