Yousaf, Rizwan

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. [electronic resource] - PLoS genetics 03 2018 - e1007297 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

1553-7404

10.1371/journal.pgen.1007297 doi


Animals
Chromosomes, Human, Pair 5
Ear, Inner--physiopathology
Exome
Female
Genes, Recessive
Genetic Linkage
Hair Cells, Auditory, Inner
Hearing Loss, Sensorineural--genetics
Homeostasis
Humans
Male
Mice
Pedigree
Phosphotransferases (Phosphate Group Acceptor)--genetics
Point Mutation