Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
纯合性作图和靶向基因组测序揭示了近亲家族中导致小脑发育不全和四足行走的基因
期刊:Genome Research
影响因子:6.2
doi:10.1101/gr.126110.111.
Suleyman Gulsuner ,Ayse Begum Tekinay, Katja Doerschner, Huseyin Boyaci, Kaya Bilguvar, Hilal Unal, Aslihan Ors, O Emre Onat, Ergin Atalar, A Nazli Basak, Haluk Topaloglu, Tulay Kansu, Meliha Tan, Uner Tan, Murat Gunel, Tayfun Ozcelik