A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothe...
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60
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Author / Creator
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 and Liu, Xuezhong
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Scope and Contents
Contents
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 function. In this study, we first used NADf chip t...
Alternative Titles
Full title
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4836961
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4836961
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-016-1657-7
