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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 20"
Page 1
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Am J Med Genet A. 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174.
Am J Med Genet A. 2008.
PMID: 18348273
Autosomal dominant inheritance is described in about 20% of all nonsyndromic hearing loss with currently 54 distinct loci (DFNA1-54), and >20 different genes identified. Seven different unconventional myosin genes are involved in ten differen …
Autosomal dominant inheritance is described in about 20% of all nonsyndromic hearing loss with currently …
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.
Su CC, Yang JJ, Shieh JC, Su MC, Li SY.
Su CC, et al.
Audiol Neurootol. 2007;12(1):20-6. doi: 10.1159/000096154. Epub 2006 Oct 10.
Audiol Neurootol. 2007.
PMID: 17033161
Defects in KCNQ4, a voltage-gated potassium channel, are a cause of nonsyndromic sensorineural deafness type 2, an autosomal dominant form of progressive hearing loss. We present data of mutation analysis of KCNQ4 from 185 unrelated Taiwanese probands with nonsyn …
Defects in KCNQ4, a voltage-gated potassium channel, are a cause of nonsyndromic sensorineural deafness type 2, an autosomal domin …
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A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG, Jang J, Jin HS.
Lee CG, et al.
Mol Med Rep. 2018 Jun;17(6):7611-7617. doi: 10.3892/mmr.2018.8837. Epub 2018 Mar 29.
Mol Med Rep. 2018.
PMID: 29620237
Free PMC article.
The ACTG1 gene encodes the cytoskeletal protein gamma-actin, which functions in non-muscle cells and is abundant in the auditory hair cells of the cochlea. Autosomal dominant missense mutations in ACTG1 are associated with DFNA20/26, a disorder that is typically cha …
The ACTG1 gene encodes the cytoskeletal protein gamma-actin, which functions in non-muscle cells and is abundant in the auditory hair cells …
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