A novel type of spondylo-epi-metaphyseal dysplasia with immuno-deficiency caused by mutation in EXTL3 encoding a glycosyltransferase responsible for biosynthesis of heparan sulfate
A novel type of spondylo-epi-metaphyseal dysplasia with immuno-deficiency caused by mutation in EXTL3 encoding a glycosyltransferase responsible for biosynthesis of heparan sulfate
复制标题
一种新型的脊柱上干骺端发育不良，由 EXTL3 突变引起，该酶编码负责硫酸乙酰肝素生物合成的糖基转移酶
DOI：
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发表时间：
2018
期刊：
影响因子：
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通讯作者：
and Shiro Ikegawa
中科院分区：
文献类型：
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作者：
Shuji Mizumoto;Long Guo;Nursel H Elcioglu;Zheng Wang;Bilge Noyan;Hatice M Albayrak;Naomichi Matsumoto;Noriko Miyake;Gen Nishimura;Shuhei Yamada;and Shiro Ikegawa
