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Article

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.

Clinical genetics - 1 May 1998

Kroos M A, van Leenen D, Verbiest J, Reuser A J, Hermans M M

Abstract excerpt

In nine Dutch patients with the infantile form of glycogen storage disease type II (GSDII), who were compound heterozygous for either 525delT or exon18del (1), sequence analysis was performed to search for the mutations in the second lysosomal alpha-glucosidase allele. One patient had a novel TG deletion at cDNA position 379 + 380. Surprisingly five of the nine patients had the same two base pair changes: A921...

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PMID: 9660056
DOI: 10.1111/j.1399-0004.1998.tb02749.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.PMID 9660056Read ↗

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