Title : A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.

Pub. Date : 2014 Oct

PMID : 24763291






2 Functional Relationships(s)
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1 RESULTS: We identified a novel missense mutation (p.Asp208His; c.622G>C) in the coenzyme Q10 (CoQ10) biosynthesis monooxygenase 6 gene (COQ6) in schwannomatosis-affected members. coenzyme Q10 putative N,N-dimethylaniline monooxygenase COQ6 Saccharomyces cerevisiae S288C
2 RESULTS: We identified a novel missense mutation (p.Asp208His; c.622G>C) in the coenzyme Q10 (CoQ10) biosynthesis monooxygenase 6 gene (COQ6) in schwannomatosis-affected members. coenzyme Q10 putative N,N-dimethylaniline monooxygenase COQ6 Saccharomyces cerevisiae S288C