Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNAAla 5601C>T and tRNALeu(CUN) 12311T>C mutations
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24298
Abstract: Sequence alternations in mitochondrial genomes, especially in genes encoding mitochondrial tRNA (mt‐tRNA), were the important contributors to nonsyndromic hearing loss (NSHL); however, the molecular mechanisms remained largely undetermined. read more here.
Keywords: nonsyndromic hearing; impairment may; maternally transmitted; hearing impairment ... See more keywords
Simultaneous multi-gene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearing-impairment in Northwest China
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DOI: 10.3892/mmr.2017.7431
Abstract: The present study aimed to investigate the molecular etiology of nonsyndromic hearing impairment (HI) in hearing impaired populations of Hui, Tibetan, and Tu ethnicities in northwest China. A total of 283 unrelated subjects with HI… read more here.
Keywords: tibetan patients; nonsyndromic hearing; northwest china; mutation ... See more keywords