Article ; Online: A Monoallelic Variant in
2021 Volume 12, Issue 11
Abstract: Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in South Africa. DNA samples from a South African family presenting with progressive, autosomal dominant non-syndromic HI were subjected to whole-exome sequencing, and ... ...
Abstract | Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in South Africa. DNA samples from a South African family presenting with progressive, autosomal dominant non-syndromic HI were subjected to whole-exome sequencing, and a novel monoallelic variant in |
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MeSH term(s) | Amino Acid Substitution ; Case-Control Studies ; Cell Nucleus/metabolism ; Female ; HEK293 Cells ; Hearing Loss, Sensorineural/genetics ; Humans ; Male ; Models, Molecular ; Neoplasm Proteins/metabolism ; Pedigree ; Protein Structure, Secondary ; Protein Structure, Tertiary ; Proto-Oncogene Proteins/metabolism ; Repressor Proteins/chemistry ; Repressor Proteins/genetics ; Repressor Proteins/metabolism ; South Africa ; Exome Sequencing/methods |
Chemical Substances | MLLT11 protein, human ; Neoplasm Proteins ; Proto-Oncogene Proteins ; RE1-silencing transcription factor ; Repressor Proteins |
Language | English |
Publishing date | 2021-11-06 |
Publishing country | Switzerland |
Document type | Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't |
ZDB-ID | 2527218-4 |
ISSN | 2073-4425 ; 2073-4425 |
ISSN (online) | 2073-4425 |
ISSN | 2073-4425 |
DOI | 10.3390/genes12111765 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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