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[DOI] [PubMed] [Google Scholar] 89.Yusri, K., Kumar, S., Fong, S., Gruber, J

Patients frequently experience: Fatigue and generalised weakness that persists despite adequate rest Breathlessness on exertion due to anaemia Palpitations and reduced exercise tolerance Pallor of the skin and mucous membranes These symptoms result from megaloblastic anaemia, where impaired DNA synthesis leads to the production of abnormally large, dysfunctional red blood cells with reduced oxygen-carrying capacity

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The impact of different presenilin 1 and presenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain evidence for other phenotype-modifying factors