未登录Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability
Breuss, Martin W.; Thai Nguyen; Srivatsan, Anjana; Leca, Ines; Tian, Guoling; Fritz, Tanja; Hansen, Andi H.; Musaev, Damir; McEvoy-Venneri, Jennifer; James, Kiely N.; Rosti, Rasim O.; Scott, Eric; Tan, Uner; Kolodner, Richard D.; Cowan, Nicholas J.; Keays, David A.; Gleeson, Joseph G.
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收藏Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotionATPase,氨基磷脂转运蛋白ATP8A2的错义突变与小脑萎缩和四足运动有关
Onat, Onur Emre; Gulsuner, Suleyman; Bilguvar, Kaya; Basak, Ayse Nazli; Topaloglu, Haluk; Tan, Meliha; Tan, Uner; Gunel, Murat; Ozcelik, Tayfun
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收藏Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
Gulsuner, Suleyman; Tekinay, Ayse Begum; Doerschner, Katja; Boyaci, Huseyin; Bilguvar, Kaya; Unal, Hilal; Ors, Aslihan; Onat, O. Emre; Atalar, Ergin; Basak, A. Nazli; Topaloglu, Haluk; Kansu, Tulay; Tan, Meliha; Tan, Uner; Gunel, Murat; Ozcelik, Tayfun
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