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One of the diseases resulting from such mutations in the PHOX2B gene is the disease CCHS. This is a rare and life-threatening syndrome in which babies, children and adults stop breathing as soon as they fall asleep. Patients must be connected to ventilators to
Toxic proteins accumulate in the brains of Alzheimer's patients. In the familial Alzheimer's patients, the accumulation mechanism is clear since there is a circumstantial relationship between the mutations and the identity of the defective proteins. In the random disease, on the other hand, the cause of the accumulation of proteins
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