The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
着丝粒蛋白 CENPF 在人类纤毛病和小头畸形表型中发生突变
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2014-102691
Aoife M Waters, Rowan Asfahani, Paula Carroll, Louise Bicknell, Francesco Lescai, Alison Bright, Estelle Chanudet, Anthony Brooks, Sonja Christou-Savina, Guled Osman, Patrick Walsh, Chiara Bacchelli, Ariane Chapgier, Bertrand Vernay, David M Bader, Charu Deshpande, Mary O' Sullivan, Louise Ocaka, Ho