Phrases with «missense mutations»

"Missense mutations" refer to DNA mutations that result in a change of a single amino acid in a protein sequence. Instead of the correct amino acid being present, a different one is substituted, which can affect the functioning of the protein. Full definition

Sentences with «missense mutations»

  • A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family. (mendelian.org)
  • In November 2014 the team published their discovery in A Novel Missense Mutation in ADAMTS10 in Norwegian Elkhound Primary Glaucoma (PLoS ONE 9 (11): e111941). (sciencedaily.com)
  • The whole - genome sequencing data yielded a strong association between SSS and a rare missense mutation in MYH6 that could not be accounted for by any other sequence variation. (decode.com)
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