Article
Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation.
The Journal of neuropsychiatry and clinical neurosciences - 1 Jan 2000
Jorge R, Mangone C, Castano E, Perandones C, Rogaeva E, St George-Hyslop P, El Hachimi K H, Foncin J F, Robinson R G, Bruni A C
Abstract excerpt
At least 30 different missense mutations have been identified within the presenilin 1 (PS1) gene in pedigrees transmitting familial Alzheimer's disease. The authors investigated the clinical and pathological features of affected members of two pedigrees segregating a PS1 Met146Leu mutation. Genetic relationships between these pedigrees can be effectively excluded on the basis of genealogical data and the fact...
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