Article
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
Human mutation - 1 Jun 2008
Pittis M G, Donnarumma M, Montalvo A L E, Dominissini S, Kroos M, Rosano C, Stroppiano M, Bianco M G, Donati M A, Parenti G, D'Amico A, Ciana G, Di Rocco M, Reuser A, Bembi B, Filocamo M
Abstract excerpt
We characterized 29 unrelated patients presenting with the severe form of Pompe disease (Glycogen Storage Disease Type II, acid maltase deficiency) and identified 26 pathogenic mutations divided over 28 different genotypes. Among the eight new mutations, five were exonic point mutations (c.572A>G, c.1124G>T, c.1202A>G, c.1564C>G and c.1796C>A) leading to codon changes (p.Y191C, p.R375L, p.Q401R, p.P522A and...
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