Article ID Journal Published Year Pages File Type
8646240 Gene Reports 2018 24 Pages PDF
Abstract
This is the first report of K118M mutation in the ACTG1 gene causing hearing loss in the Chinese population. The present data are in line with previous evidence to suggest that codon K118 of ACTG1 may represent a mutational hot spot that justifies a mutation screen for diagnostic purpose in the genetically heterogeneous group of DFNA20/26.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
, , , , , , , , , , ,