Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis

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Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.

BACKGROUND Nonsyndromic hearing loss (NSHL) is the most common type of hereditary hearing impairment (HHI). It is genetically heterogeneous, and although the exact number of genes is not known, 38 loci have been identified. By cloning the relevant genes and studying the function of the encoded proteins at the molecular level, it may be possible to impact the habitation of persons at risk for HH...

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ژورنال

عنوان ژورنال: Genetics in Medicine

سال: 2019

ISSN: 1098-3600,1530-0366

DOI: 10.1038/s41436-019-0594-y