A case of tubulinopathy presenting with porencephaly caused...

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A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene

Sato, Tatsuharu, Kato, Mitsuhiro, Moriyama, Kaoru, Haraguchi, Kohei, Saitsu, Hirotomo, Matsumoto, Naomichi, Moriuchi, Hiroyuki
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Language:
english
Journal:
Brain and Development
DOI:
10.1016/j.braindev.2018.05.012
Date:
June, 2018
File:
PDF, 706 KB
english, 2018
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