Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
Сhurbanov, Alexander Y
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). [electronic resource] - PloS one 2016 - e0153841 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1932-6203
10.1371/journal.pone.0153841 doi
Cohort Studies
DNA Mutational Analysis
Deafness--genetics
Exome
Exons
Family Health
Female
Genetic Variation
Genome, Human
Geography
Homozygote
Humans
Male
Membrane Proteins--genetics
Membrane Transport Proteins--genetics
Mutation
Mutation, Missense
Pedigree
Siberia
Sulfate Transporters
Trans-Activators
Transcription Factors--genetics
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). [electronic resource] - PloS one 2016 - e0153841 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1932-6203
10.1371/journal.pone.0153841 doi
Cohort Studies
DNA Mutational Analysis
Deafness--genetics
Exome
Exons
Family Health
Female
Genetic Variation
Genome, Human
Geography
Homozygote
Humans
Male
Membrane Proteins--genetics
Membrane Transport Proteins--genetics
Mutation
Mutation, Missense
Pedigree
Siberia
Sulfate Transporters
Trans-Activators
Transcription Factors--genetics