A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy

Abstract Mutations in the Angiogenin gene ( ANG ) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutat...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2008-01, Vol.18 (1), p.68-70
Hauptverfasser:	Conforti, F.L, Sprovieri, T, Mazzei, R, Ungaro, C, La Bella, V, Tessitore, A, Patitucci, A, Magariello, A, Gabriele, A.L, Tedeschi, G, Simone, I.L, Majorana, G, Valentino, P, Condino, F, Bono, F, Monsurrò, M.R, Muglia, M, Quattrone, A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged ALS Amino Acid Substitution - genetics Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - metabolism Amyotrophic Lateral Sclerosis - physiopathology Angiogenin gene Association study Chromosome Mapping Chromosomes, Human, Pair 14 - genetics Cytoprotection - genetics DNA Mutational Analysis Female Genetic Linkage - genetics Genetic Markers - genetics Genetic Predisposition to Disease - genetics Genetic Testing Humans Italy Male Middle Aged Motor Neurons - metabolism Motor Neurons - pathology Mutation - genetics Nerve Degeneration - genetics Nerve Degeneration - metabolism Nerve Degeneration - physiopathology Neurology Polymorphism, Single Nucleotide - genetics Ribonuclease, Pancreatic - chemistry Ribonuclease, Pancreatic - genetics
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