The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report

BACKGROUND: Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-syndromic hearing loss (NSHL) in either a dominant or recessive inheritance pattern. Among the identified TECTA mutations, H1400Y has been associated with NSHL in two independent studies. However, its exact rol...

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Bibliografske podrobnosti
izdano v:BMC Med Genet
Main Authors: Nam, Gi-Sung, Rim, John Hoon, Choi, Jae Young, Gee, Heon Yung, Choi, Jong Rak, Lee, Seung-Tae, Jung, Jinsei
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2019
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6444877/
https://ncbi.nlm.nih.gov/pubmed/30935366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0775-1
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