| 21. | The missense mutation G16S is the most common mutation that leads to D-BP deficiency.
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| 22. | The mutations identified are generally heterozygous missense mutations : S262Y, P62S, Y172H and R535C.
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| 23. | Approximately 70 % of galactosemia-causing alleles have a single missense mutation in exon 6.
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| 24. | Two different types of mutations exist within the group of missense mutations causing loss of NCC function.
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| 25. | In patients with congenital atrial septal defect carrying a missense mutation alpha myosin heavy chain is disrupted.
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| 26. | In some cases, single missense mutations in p53 have been shown to disrupt p53 stability and function.
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| 27. | There are at least two other types of recognized point mutations, specifically missense mutation and nonsense mutation.
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| 28. | Type 2 VHL has been linked to missense mutations and is linked to a high risk of pheochromocytoma.
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| 29. | From the results it was noted that most of the mutations were due to frameshift and missense mutations.
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| 30. | The vast majority of HSP-associated mutations are missense mutations that are scattered throughout the affected protein.
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