… and genetic associations with APP and PSEN1 mutations in symptomatic autosomal dominant
familial Alzheimer’s disease (… of a gene bearing missense mutations in early-onset familial …

… and, respect to missense mutations, these duplications seem … 600759, chromosome 1q31-q42)
gene has a genetic structure … Genetic counseling and testing for Alzheimer disease: Joint …

… of missense SORL1 variations in the few carrier kindreds … dementia of Alzheimer type (DAT)
cases, including kindreds with … [14], and a recently reported missense mutation segregating …

… His163Arg missense mutation of PSEN1 diagnosed in Hong Kong, including two affected
family members: a female patient with AOO at 42 years and a male patient with AOO at 41 …

… Alzheimer's disease (AD) is a progressive … the APP gene on chromosome 21 [9], the
presenilin 1 (PSEN1) gene on … of PSEN1 mutations in EOAD are missense mutations, which …

… to the missense mutations, showing a near-complete disease … peak at chromosome 7q36
but candidate gene screening in this … mutations carriers from the Colombian PSEN1 kindred …

… mutations in both PS-1 and PS-2 are missense mutations … The Australian kindred has an
interesting phenotype in which … STN-12, the chromosome I familial Alzheimer's disease gene. …

… the genetics underlying early-onset Alzheimer’s disease (AD) … mutations in PSEN1 and
MAPT genes in a Finnish EOD cohort. Both identified cases had a very early onset of the disease …

… at position 73,664,808 in chromosome 14, is often referred to as the E280A or Paisa
mutation. … Here we show an important set of genes whose role in the pathophysiology and …

… effect in the gene (nonsynonymous missense, nonsense, affecting … Based on the hypothesis
that the mutation underlying the disease … However, even within the same kindred, significant …