A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

The high prevalence/incidence of hearing loss (HL) in humans makes it the most common sensory defect. The majority of the cases are of genetic origin. Non-syndromic hereditary HL is extremely heterogeneous. Genetic approaches have been instrumental in deciphering genes that are crucial for auditory...

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Publicado en:Hum Genet
Autores principales: Ben Said, Mariem, Grati, M’hamed, Ishimoto, Takahiro, Zou, Bing, Chakchouk, Imen, Ma, Qi, Yao, Qi, Hammami, Bouthaina, Yan, Denise, Mittal, Rahul, Nakamichi, Noritaka, Ghorbel, Abdelmonem, Neng, Lingling, Tekin, Mustafa, Shi, Xiao Rui, Kato, Yukio, Masmoudi, Saber, Lu, Zhongmin, Hmani, Mounira, Liu, Xuezhong
Formato: Artigo
Lenguaje:Inglês
Publicado: 2016
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4836961/
https://ncbi.nlm.nih.gov/pubmed/27023905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1657-7
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