missense mutation sentence in Hindi
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- The missense mutation G16S is the most common mutation that leads to D-BP deficiency.
- The mutations identified are generally heterozygous missense mutations : S262Y, P62S, Y172H and R535C.
- Approximately 70 % of galactosemia-causing alleles have a single missense mutation in exon 6.
- Two different types of mutations exist within the group of missense mutations causing loss of NCC function.
- In patients with congenital atrial septal defect carrying a missense mutation alpha myosin heavy chain is disrupted.
- In some cases, single missense mutations in p53 have been shown to disrupt p53 stability and function.
- There are at least two other types of recognized point mutations, specifically missense mutation and nonsense mutation.
- Type 2 VHL has been linked to missense mutations and is linked to a high risk of pheochromocytoma.
- From the results it was noted that most of the mutations were due to frameshift and missense mutations.
- The vast majority of HSP-associated mutations are missense mutations that are scattered throughout the affected protein.
- These genotype phenotype correlations suggest that missense mutations of pVHL lead to a'gain of function'protein.
- The second most frequent mutation was the missense mutation N457Y which was seen in 13 of the 110 patients.
- It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa.
- The geneticists examined how a missense mutation would affect the function of the DNA by looking at DNA models.
- Missense mutations in the " dnaQ " gene lead to the induction of the SOS DNA repair mechanism.
- Patients with missense mutations tend to have less severe symptoms, pachygyria, and rare cases of subcortical band heterotopia.
- There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and missense mutations.
- These patients show a higher variability in outcomes with a number of patients with SUCLA2 missense mutation surviving into adulthood.
- Mice have also been created that are homozygous for a missense mutation in " Hfe " ( C282Y ).
- Most type II patients show missense mutations in D-BP hydratase unit as well as some in-frame deletions.
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