A 34-year-old Japanese patient exhibiting NBAS deficiency...

European Journal of Medical Genetics 2020 / 11 Vol. 63; Iss. 11

A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation

Suzuki, Shigeru, Kokumai, Takahide, Furuya, Akiko, Nagamori, Tsunehisa, Matsuo, Kumihiro, Ueda, Osamu, Mukai, Tokuo, Ito, Yoshiya, Yano, Koichi, Fujieda, Kenji, Okuno, Akimasa, Tanahashi, Yusuke, Azum
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Volume:
63
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2020.104039
Date:
November, 2020
File:
PDF, 39 KB
2020
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