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Missense Mutation


In genetics, a missense mutation is a point mutation in which a single nucleotide is changed, resulting in a codon that codes for a different amino acid. This can render the resulting protein nonfunctional. Such mutations are responsible for diseases such as Epidermolysis bullosa, sickle-cell disease, and SOD1 mediated ALS .
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Missense mutations. With a missense mutation, the new nucleotide alters the codon so as to produce ... Measuring Mutation Rate ...
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missense mutation ( ′misəns myü′tāshən ) ( cell and molecular biology ) A mutation that converts a codon coding for one amino acid to a codon coding
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Online Medical Dictionary and glossary with medical definitions ... A missense mutation is a "readable" genetic message although its "sense" (its ...
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That all missense FH mutations associating with MCUL/hereditary leiomyomatosis ... Twenty-seven of these are missense mutations of 26 different residues (one ...
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At least 16 PRODH missense mutations have been identified in studies of type I ... Among these 16 missense mutations, we found 4 that result in a mild (30%) (group ...
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Missense mutation summary with 3 pages of encyclopedia entries, essays, summaries, research information, and more. ... Missense mutation G296S in GATA4 is not ...
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effects of missense mutations upon protein structure and function ... comprised of 2 new missense mutation ... Similar to the PTPs, missense mutation of ...
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now show the effects of 11 Nf2 missense mutations on ... showed that many of the missense mutations altered the ... nomin with the missense mutation L360P did not in ...
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Here, we describe missense. mutations in three additional families ... reports, the DAX1 missense mutations ap ... I439S missense mutation, found in ...
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The world's first wiki where authorship really matters. Due credit and ... A missense mutation in the rod domain of keratin 14 associated with recessive ...
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... be seen, clinically important missense mutations generally change the properties ... Missense mutations: which code for a different amino acid. ...
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The PAX6 mutation database currently contains five missense ... Analysis of a PAX6 missense mutation V126D in the family of a boy with ectopia pupillae. ...
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Definition and other additional information on Missense mutation from Biology-Online.org dictionary. ... synonymous vs conservative missense mutation ...
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results showed that missense mutations dispropor ... hypothesis, the number of ways a missense mutation ... If the random mutation model were. correct, then ...
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Inherited missense mutations in the tumor suppressor gene, BRCA-1, may ... In addition, missense mutations disproportionately perturb conserved amino acids ...
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Even when expressed as protein, missense mutations may result in loss of a ... Missense mutations have since been reported in biliary cancers (17) ...
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naturally occurring MADH4 missense mutations, the MH2 ... locations of the missense mutations ... and one biliary cancer xenograft), a missense mutation was ...
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