Occurrence of del( GIB6 -D13S1830) mutation in italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele
Author:
Publisher
Informa UK Limited
Subject
Otorhinolaryngology,General Medicine
Cited by 22 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families;Molecular Genetics & Genomic Medicine;2020-02-17
2. Single Cell and Single Nucleus RNA-Seq Reveal Cellular Heterogeneity and Homeostatic Regulatory Networks in Adult Mouse Stria Vascularis;Frontiers in Molecular Neuroscience;2019-12-20
3. Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss;American Journal of Medical Genetics Part A;2018-03-25
4. A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall;Neurobiology of Disease;2017-12
5. Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL);Brazilian Archives of Biology and Technology;2016
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