Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com

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Πέμπτη 16 Φεβρουαρίου 2017

Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties

Publication date: Available online 16 February 2017
Source:Data in Brief
Author(s): Yuki Miyamoto, Tomohiro Torii, Kazuko Kawahara, Nanami Hasegawa, Akito Tanoue, Yoichi Seki, Takako Morimoto, Megumi Funakoshi-Tago, Hiroomi Tamura, Keiichi Homma, Masahiro Yamamoto, Junji Yamauchi
Hypomyelinating leukodystrophy (HLD) is genetic demyelinating or dismyelinating disease and is associated with at least 13 responsible genes. The mutations seem likely cause the functional deficiency of their gene products. HLD4- and HLD5-associated HSPD1 and FAM126A mutations affect biochemical properties of the gene products [1, 2]. Herein we provide the data regarding the effects of HLD6-associated tubulin beta 4A (TUBB4A) mutations on the properties.



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