Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss
Author:
Funder
National Institute on Deafness and Other Communication Disorders
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-020-02197-5.pdf
Reference43 articles.
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2. Azaiez H, Booth KT, Bu F et al (2014) TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat 35:819–823. https://doi.org/10.1002/humu.22557
3. Azaiez H, Booth KT, Ephraim SS et al (2018) Genomic landscape and mutational signatures of deafness-associated genes. Am J Hum Genet 103:484–497. https://doi.org/10.1016/j.ajhg.2018.08.006
4. Bae SH, Robertson NG, Cho HJ et al (2014) Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder. Hum Mutat 35:1506–1513. https://doi.org/10.1002/humu.22701
5. Bai X, Zhang C, Zhang F et al (2020) Five novel mutations in LOXHD1 gene were identified to cause autosomal recessive nonsyndromic hearing loss in four chinese families. Biomed Res Int. https://doi.org/10.1155/2020/1685974
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