Article
A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.
Archives of neurology - 1 Jan 1999
Yasuda M, Maeda K, Hashimoto M, Yamashita H, Ikejiri Y, Bird T D, Tanaka C, Schellenberg G D
Abstract excerpt
OBJECTIVE: To disclose a novel mutation of the presenilin 1 (PS1) gene responsible for early-onset Alzheimer disease and to clarify genotype-phenotype correlation that should help to establish the function of this protein. BACKGROUND: The PS1 and presenilin 2 (PS2) genes carry missense mutations in families with Alzheimer disease. The PS1 and PS2 proteins have similar structures, and all presently known mutations...
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