Article ID Journal Published Year Pages File Type
5907257 Gene 2012 5 Pages PDF
Abstract
► One Korean family including a young female with goiter and sensorineural HL. ► Compound heterozygous mutation for p.R677AfsX11 and p.H723R in the SLC26A4 gene. ► Provide genetic information for the distribution of mutant alleles for PS.
Keywords
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Preview
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome
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