A Mutational Analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in Children with Nonsyndromic Hearing Loss in the Henan Province of China-Reference-Cited by-同舟云学术

A Mutational Analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in Children with Nonsyndromic Hearing Loss in the Henan Province of China

Published:2019-01 Issue:1 Volume:23 Page:51-56
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Ming Liang¹,Wang Yangxia¹,Lu Wei²,Sun Ting¹

Affiliation:

1. Key Clinical Laboratory of Henan Province, Department of Clinical Laboratory, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

2. Department of Otology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2018.0146

Reference44 articles.

1. Prevalent connexin 26 gene (GJB2) mutations in Japanese

2. Hereditary deafness and phenotyping in humans

3. Connexin 26 R143W Mutation Associated with Recessive Nonsyndromic Sensorineural Deafness in Africa

4. Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

Cited by 7 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. Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China;International Journal of Pediatric Otorhinolaryngology;2024-01

2. Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss;Journal of Clinical Laboratory Analysis;2022-09-26

3. Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss;European Journal of Medical Genetics;2022-02

4. Late onset of type 2 diabetes is associated with mitochondrial tRNA Trp A5514G and tRNA Ser(AGY) C12237T mutations;Journal of Clinical Laboratory Analysis;2021-11-22

5. Next‐generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss;Molecular Genetics & Genomic Medicine;2020-10-23