Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II

Author:

Ausems Margreet G. E. M.,Kroos Marian A.,Kraan Magna,Smeitink Jan A. M.,Kleijer Wim J.,Amstel Hans Kristian Ploos,Reuser Arnold J. J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Identification of a deletion common to adult and infantile acid α-glucosidase deficiency;Boerkoel;Am J Hum Genet,1992

2. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II;Boerkoel;Am J Hum Genet,1995

3. The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II;Hermans;Hum Mol Genet,1994

4. Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex;Hoefsloot;EMBO J,1988

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