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