| 31. | These genotype phenotype correlations suggest that missense mutations of pVHL lead to a'gain of function'protein.
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| 32. | The second most frequent mutation was the missense mutation N457Y which was seen in 13 of the 110 patients.
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| 33. | It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa.
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| 34. | The geneticists examined how a missense mutation would affect the function of the DNA by looking at DNA models.
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| 35. | Missense mutations in the " dnaQ " gene lead to the induction of the SOS DNA repair mechanism.
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| 36. | Patients with missense mutations tend to have less severe symptoms, pachygyria, and rare cases of subcortical band heterotopia.
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| 37. | There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and missense mutations.
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| 38. | These patients show a higher variability in outcomes with a number of patients with SUCLA2 missense mutation surviving into adulthood.
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| 39. | Mice have also been created that are homozygous for a missense mutation in " Hfe " ( C282Y ).
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| 40. | Most type II patients show missense mutations in D-BP hydratase unit as well as some in-frame deletions.
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