Cargando…
Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India
BACKGROUND & OBJECTIVES: Hearing impairment is a common and heterogeneous sensory disorder in humans. Among about 90 genes, which are known to be associated with hearing impairment, mutations in the GJB2 (gap junction protein beta 2) gene are the most prevalent in individuals with hereditary hea...
Autores principales: | Singh, Pawan Kumar, Ghosh, Manju, Sharma, Shipra, Shastri, Shivaram, Gupta, Neerja, Chowdhury, Madhumita Roy, Anand, Anuranjan, Kabra, Madhulika |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663163/ https://www.ncbi.nlm.nih.gov/pubmed/28862181 http://dx.doi.org/10.4103/ijmr.IJMR_397_15 |
Ejemplares similares
-
TMC1 may be a common gene for nonsyndromic hereditary hearing loss in Indian population
por: Singh, Pawan Kumar, et al.
Publicado: (2014) -
Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss
por: Singh, Pawan Kumar, et al.
Publicado: (2018) -
TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins
por: Keresztes, Gabor, et al.
Publicado: (2003) -
Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis
por: Sharma, Pankaj, et al.
Publicado: (2014) -
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
por: Zardadi, Safoura, et al.
Publicado: (2020)