missense mutation उदाहरण वाक्य
उदाहरण वाक्य
- 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.