Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.

doi:10.1111/j.1399-0004.1998.tb02597.x

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Article

Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.

Clinical genetics - 1 Jun 1998

Morelli L, Prat M I, Levy E, Mangone C A, Castaño E M

Abstract excerpt

Most of the cases of early-onset familial Alzheimer's disease (FAD) are related to missense mutations in the presenilin 1 (PS-1) gene on chromosome 14. Although PS-1 mutations are distributed throughout the entire open reading frame, most mutations are found in transmembrane region II and hydroph...

Topics

Adenine
Adult
Age of Onset
Alzheimer Disease
Amino Acid Substitution
Argentina
Female
Genetic Variation
Humans
Leucine
Male
Membrane Proteins
Methionine
Middle Aged
Pedigree
Presenilin-1
Thymine

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