Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Li, Meng

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 12 2019 - 2744-2754 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1530-0366

10.1038/s41436-019-0594-y doi


Adolescent
Adult
Aged
Animals
China
Cochlea--metabolism
Deafness--etiology
Exome
Family
Female
Genetic Linkage
Genetic Testing
Genotype
Hearing Loss--genetics
Heterozygote
Humans
Male
Mice
Mice, Inbred C57BL
Multidrug Resistance-Associated Proteins--genetics
Mutation
Mutation, Missense
Pedigree
Phenotype
Sequence Analysis, DNA--methods
Exome Sequencing