Associated Papers
Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2025
A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.
Wang S et al.
Molecular Genetics & Genomic Medicine, 2024
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2022
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
Albader N et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss.
Lee B et al.
Human Mutation, 2019
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
Rendtorff ND et al.
Clinical Genetics, 2013
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
Hutchin T et al.
Clinical Genetics, 2005
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