Molecular analysis of SLC26A4 gene in a Chinese deafness family.
Copyright policy )Molecular analysis of SLC26A4 gene in a Chinese deafness family.
To identify the pathogenic gene for a non-syndromic hearing loss family.Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was detected in the father, heterozygous mutation N392Y was detected in the mother.The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.
- Central South University China (People's Republic of)
Adult, Family Health, Male, Base Sequence, DNA Mutational Analysis, Molecular Sequence Data, Membrane Transport Proteins, Deafness, Polymerase Chain Reaction, Sulfate Transporters, Mutation, Humans, Female, Tomography, X-Ray Computed
Adult, Family Health, Male, Base Sequence, DNA Mutational Analysis, Molecular Sequence Data, Membrane Transport Proteins, Deafness, Polymerase Chain Reaction, Sulfate Transporters, Mutation, Humans, Female, Tomography, X-Ray Computed
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).0 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!