Reilly, Madeline Louise

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