A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
复制标题
髓鞘形成低下患者中出现类似 Pelizaeus-Merzbacher 病的从头 TUBB4A 突变。
DOI:
10.1016/j.braindev.2014.05.004
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发表时间:
2015
影响因子:
1.7
通讯作者:
Yamamoto T.
中科院分区:
文献类型:
--
作者:
Shimojima K;Okumura A;Ikeno M;Nishimura A;Saito A;Saitsu H;Matsumoto N;Yamamoto T.