Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. [electronic resource]
- Human molecular genetics 03 2019
- 778-795 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddy381 doi
Animals Congenital Abnormalities--genetics Cytokinesis--genetics Disease Models, Animal Female Fluorescent Antibody Technique Genes, Lethal Genetic Association Studies--methods Genetic Loci Genetic Predisposition to Disease Humans Kidney--abnormalities Kidney Diseases--congenital Kinesins--chemistry Loss of Function Mutation Male Microcephaly--genetics Oncogene Proteins--chemistry Pedigree Phenotype Structure-Activity Relationship Zebrafish