Worldwide distribution of PSEN1 Met146Leu mutation: A large variability for a founder mutation

Objective: Large kindreds segregating familial Alzheimer disease (FAD) offer the opportunity of studying clinical variability as observed for presenilin 1 (PSEN1) mutations. Two early-onset FAD (EOFAD) Calabrian families with PSEN1 Met146Leu (ATG/CTG) mutation constitute a unique population descendi...

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Hauptverfasser: Bruni, A. C., Bernardi, L., Colao, R., Rubino, E., Smirne, N., Frangipane, F., Terni, B., Curcio, S.A.M., Mirabelli, M., Clodomiro, A., Di Lorenzo, R., Maletta, R., Anfossi, M., Gallo, M., Geracitano, S., Tomaino, C., Muraca, M. G., Leotta, A., Lio, S. G., Pinessi, L., Rainero, I., Sorbi, S., Nee, L., Milan, G., Pappatá, S., Postiglione, A., Abbamondi, N., Forloni, G., St. George Hyslop, P., Rogaeva, E., Bugiani, O., Giaccone, G., Foncin, J. F., Spillantini, M. G., Puccio, G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Lippincott Williams & Wilkins 2010
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3672006/
https://ncbi.nlm.nih.gov/pubmed/20164095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181d52785
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