The combined frequency of >400 of these LoF-damaging ACE mutations in the general population is quite significant—up to 5%—comparable to the frequency of AD in the population > 70 y.o., which indicates that the contribution of low ACE in the development of AD could be under appreciated.
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Carriers of Heterozygous Loss-of-Function ACE Mutations Are at Risk for Alzheimer's Disease.
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