Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants
罗马尼亚 Bardet-Biedl 综合征患者外显子组测序显示,BBS12 变异体数量过多
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63322
Sheraz Khan, Ina Ofelia Focșa, Magdalena Budișteanu, Cristina Stoica, Florina Nedelea, Laurențiu Bohîlțea, Lavinia Caba, Lăcrămioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurcă, Adela Chirita-Emandi, Claudia Bănescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela Bălgrădean,