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Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree

✍ Scribed by George Miltiadous; Moses Elisaf; Stavroulla Xenophontos; Panayiotis Manoli; Marios A. Cariolou


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
14 KB
Volume
16
Category
Article
ISSN
1059-7794

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A novel missense mutation (G209R) in exo
✍ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 17 KB πŸ‘ 2 views

Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af