Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish
KIF14基因的功能缺失突变会导致人类和斑马鱼出现严重的头小畸形和肾脏发育缺陷。
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddy381
Madeline Louise Reilly ,Marijn F Stokman ,Virginie Magry ,Cecile Jeanpierre ,Marine Alves ,Mohammadjavad Paydar ,Jacqueline Hellinga ,Marion Delous ,Daniel Pouly ,Marion Failler ,Jelena Martinovic ,Laurence Loeuillet ,Brigitte Leroy ,Julia Tantau ,Joelle Roume ,Cheryl Y Gregory-Evans ,Xianghong Shan ,Isabel Filges ,John S Allingham ,Benjamin H Kwok ,Sophie Saunier ,Rachel H Giles ,Alexandre Benmerah