Mutation analysis of the SLC26A4 gene in three Chinese families

C Wen, S Wang, X Zhao, X Wang, X Wang… - Bioscience …, 2019 - jstage.jst.go.jp
In order to investigate the genetic causes of hearing loss in a Chinese proband (in Family A)
with enlarged vestibular aqueduct (EVA) and to investigate the genotype of two Chinese …

Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct

X Zhao, X Cheng, L Huang, X Wang, C Wen… - BioScience …, 2018 - jstage.jst.go.jp
In order to investigate the genetic causes of hearing loss in a Chinese proband with
nonsyndromic hearing loss and enlarged vestibular aqueduct (EVA), we conducted clinical …

A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct

Y Liang, Q Peng, K Wang, P Zhu, C Wu, C Rao… - International Journal of …, 2018 - Elsevier
Objectives To identity the genetic causes of hearing loss in a Han Chinese family with
enlarged vestibular aqueduct syndrome. Methods Multiplex PCR technology combined with …

A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct

X He, Q Peng, S Li, P Zhu, C Wu, C Rao… - International Journal of …, 2017 - Elsevier
Objectives We aimed to investigate the genetic causes of hearing loss in a Chinese proband
with nonsyndromic hearing loss and enlarged vestibular aqueduct syndrome. Methods We …

[HTML][HTML] SLC26A4 c. 919-2A> G varies among Chinese ethnic groups as a cause of hearing loss

P Dai, Q Li, D Huang, Y Yuan, D Kang, DT Miller… - Genetics in …, 2008 - nature.com
Purpose: Mutations in the SLC26A4 gene are second only to GJB2 mutations as a currently
identifiable genetic cause of sensorineural hearing loss. In most areas of China, genetic …

Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children

X Hu, F Liang, M Zhao, A Gong, ER Berry, Y Shi… - International Journal of …, 2012 - Elsevier
OBJECTIVE: To investigate the mutations of SLC26A4 gene and the relevant phenotype in
Chinese sporadic nonsyndromic hearing-impaired children. METHODS: 195 Chinese …

Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct

G Yao, S Li, D Chen, H Wang, J Zhang, Z Feng… - International Journal of …, 2013 - Elsevier
OBJECTIVE: Enlarged vestibular aqueduct is the most common inner ear malformation in
individuals with sensorineural hearing loss. Mutations in SLC26A4 can cause non …

[HTML][HTML] A novel frameshift mutation of SLC26A4 in a korean family with nonsyndromic hearing loss and enlarged vestibular aqueduct

B Sagong, JI Baek, KY Lee… - Clinical and Experimental …, 2017 - synapse.koreamed.org
Objectives We aimed to identify the causative mutation for siblings in a Korean family with
nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were …

[引用][C] The c.-103T> C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

T Yang, RJ Smith - Human mutation, 2009 - europepmc.org
The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental
polymorphism? - Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe …

Mutation Analysis of Slc26a4 in Mainland Chinese Patients with Enlarged Vestibular Aqueduct

S Reyes, G Wang, X Ouyang, B Han… - … —Head and Neck …, 2009 - journals.sagepub.com
OBJECTIVE: We have characterized the spectrum of SLC26A4 mutations and clinical
features in a population of mainland Chinese patients with nonsyndromic sensorineural …