Cargando…
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss
BACKGROUND: Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease. Therefore, it is difficult to identify the causative gene mutations involved. In this study, we combined targeted genomic capture and massively parallel sequenci...
Autores principales: | Wei, Qinjun, Zhu, Hongmei, Qian, Xuli, Chen, Zhibin, Yao, Jun, Lu, Yajie, Cao, Xin, Xing, Guangqian |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234825/ https://www.ncbi.nlm.nih.gov/pubmed/25388789 http://dx.doi.org/10.1186/s12967-014-0311-1 |
Ejemplares similares
-
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families
por: Brownstein, Zippora, et al.
Publicado: (2011) -
Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China()
por: Lu, Yajie, et al.
Publicado: (2011) -
GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss
por: Xing, Guangqian, et al.
Publicado: (2017) -
Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China
por: Wei, Qinjun, et al.
Publicado: (2013) -
Mutations in OSBPL2 cause hearing loss associated with primary cilia defects via sonic hedgehog signaling
por: Shi, Hairong, et al.
Publicado: (2022)