Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference31 articles.
1. Glycogen storage disease type II (GSDII);Hirschhorn,2001
2. Characterization of the human lysosomal alpha-glucosidase gene;Hoefsloot;Biochem J,1990
3. Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization;Kuo;Hum Genet,1996
4. Genetic defects in patients with glycogenosis type II (acid maltase deficiency);Raben;Muscle Nerve,1995
5. Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells;Hoefsloot;Biochem J,1990
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