Article
Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families.
Human mutation - 1 May 2001
Shah Z H, Toompuu M, Hakkinen T, Rovio A T, van Ravenswaay C, De Leenheer E M, Smith R J, Cremers F P, Cremers C W, Jacobs H T
Abstract excerpt
Two genes for components of the mitochondrial translational apparatus, mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) lie adjacent to one another on human chromosome 19, within the critical interval for the autosomal dominant deafness locus DFNA4. Both genes are plausible candidates for DFNA4, based on the fact that deafness mutations in mtDNA have been mapped both to...
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