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A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas
European Journal of Neurology, 11/21/07
Sanchez-Valle, R., et al. - The aim of this study was to describe a novel mutation in exon 8 of the presenilin gene (L286P) associated with early-onset autosomal dominant Alzheimer's disease (AD) and lobar haematomas...L286P is a novel mutation in PSEN1 that causes familial early-onset AD and brain haematomas related to amyloid angiopathy
Today in Amyloidosis...keeping you current
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Amyloid and the GI tract
Expert Review of Gastroenterology & Hepatology, 12/03/09
MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations
Rheumatology International, 10/16/09
Classification of amyloidosis by laser microdissection and mass spectrometry based proteomic analysis in clinical biopsy specimens
Blood, 10/09/09
Today in Basic Science/Genetics...keeping you current
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Increased mRNA expression of collagen V gene in pulmonary fibrosis of systemic sclerosis
European Journal of Clinical Investigation, 12/04/09
The immunoregulatory role of vitamins A, D and E in patients with primary Sjogren's syndrome
Rheumatology, 12/01/09
Cyclic AMP response element-binding protein is implicated in IL-6 production from arthritic synovial cells
Modern Rheumatology, 12/01/09
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