A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors

Missense mutation in exon 11 (codon 378)

Missense mutation in exon 11 (codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification

✍ Roger Besançon; Alberta Lorenzi; Marc Cruts; Sandrine Radawiec; Franck Sturtz; E 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 3 views

Mutations in the presenilin-1 (PS1) gene account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. We screened the coding part of the PS1 gene for the presence of mutations in a French family with EOAD, using single strand conformation polymorphism (SSCP) analysis. Patients