Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. [electronic resource]
- American journal of human genetics Jan 2011
- 19-29 p. digital
Publication Type: Journal Article
1537-6605
10.1016/j.ajhg.2010.11.010 doi
Aged Animals Base Sequence Binding Sites--genetics Carrier Proteins--genetics Cohort Studies Deafness--enzymology Ear, Inner--enzymology Exons--genetics Female Genes, Recessive Genetic Linkage Genetic Loci Hearing Loss--genetics Homozygote Humans Male Methionine Sulfoxide Reductases Mice Middle Aged Mitochondrial Diseases--enzymology Molecular Sequence Data Mutation Oxidoreductases Acting on Sulfur Group Donors--genetics Polymorphism, Single Nucleotide White People--genetics