Article
Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type.
Reviews in the neurosciences - 1 Jan 2014
Kamp Juliette A, Moursel Laure Grand, Haan Joost, Terwindt Gisela M, Lesnik Oberstein Saskia A M J, van Duinen Sjoerd G, van Roon-Mom Willeke M C
Abstract excerpt
Hereditary cerebral hemorrhage with amyloidosis - Dutch type is an autosomal dominant hereditary disease caused by a point mutation in the amyloid precursor protein gene on chromosome 21. The mutation causes an amino acid substitution at codon 693 (E22Q), the 'Dutch mutation'. Amyloid β, the product after cleavage of the amyloid precursor protein, is secreted into the extracellular space. The Dutch mutation leads...
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