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Home: Research: Compendia: Mutations: Presenilin Mutations Directory
The Presenilin Mutations

Presenilin-1 Mutations Table

Mutation: A79V

Mutation: A79V
Base Change: gCc-->gTc
Families: 1005, 1087, 1061, P#1
Onset Ages: 50-62, 50-58, 53-59, 58 years
Ethnic Origin: Caucasian
Restriction Sites: Hha I, Cfo I, Sfo I, Ehe I,
  HinP1 I, Kas I,Ban I, Bbe I,
  Nar I(wild-type)
References: Cruts 1998, Finckh 2000

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