… common genetic cause of sensorineural hearing impairment (… (Val84Ile); two patients had
autosomal recessive variants on … For the 12 patients with one recessive SLC26A4 variant, we …

… Hearing loss in the 6 patients of the 5 families is all caused by different biallelic mutations of
SLC26A4, in accordance with autosomal … SLC26A4 gene mutation in nonsyndromic hearing …

… features and causes of congenital Usher hearing loss in one … , Usher syndrome or non-syndromic
deafness DFNB18 can … 我国常见的非综合征性聋的基因有GJB2、GJB3S、SLC26A4及…

… have a genetic cause (ie hereditary hearing impairment; HHI). … SLC26A4 pathogenic
variants (including a large SLC26A4 … only one variant causing autosomal recessive SNHI in the …

… hearing loss, 8 had moderate hearing loss, and 3 had mild … There are 5 cases of SLC26A4
gene mutations, including 2 … associated with autosomalrecessive nonsyndromic hearing loss[J…

… in GJB2, followed by SLC26A4,and it will provide a theoretical basis to … A novel mutation
in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss[J].…

… and three cases had SLC26A4 mutations, two cases had MYO15A mutations… novel mutation
in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.…

… The mutations in GJB2, GJB3, GJB6, SLC26A4 genes, … family with autosomal dominant
nonsyndromic hearing loss.Method: … , SLC26A4 genes, 12SrRNA and tRNASer(UCN) mutations …

… of PDS (SLC 26 A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated
… ATP 6 V 1 B 1 and ATP 6 V 0 A 4 mutations in autosomal recessive distal renal tubular …

… 未携带或仅带有单个杂合GJB2或SLC26A4突变的患者应用PCR-DNA测序法对… novel Taperin
mutation, A187S was detected in Chinese patients with prelingual nonsyndromic hearing loss…