Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.
Publication year
1996Source
Clinical Genetics, 49, 6, (1996), pp. 325-328ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics
Journal title
Clinical Genetics
Volume
vol. 49
Issue
iss. 6
Page start
p. 325
Page end
p. 328
Subject
Central Nervous System; Chemistry, Clinical; Energy Metabolism; Fibroblasts; Genetics, Biochemical; Hereditary Diseases; Homocystinuria; Mental Disorders; Metabolic Diseases; Metabolic Processes (Non MeSH); Metabolism, Inborn Errors; Mitochondria; Mitochondrial Myopathies; Muscle, Skeletal; Mutation; Neural Tube Defects; Neuromuscular Diseases; Pregnancy Complications, Cardiovascular; Vascular DiseasesThis item appears in the following Collection(s)
- Academic publications [202563]
- Electronic publications [100700]
- Faculty of Medical Sciences [79925]
- Open Access publications [69451]
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