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Article

Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.

Biochemical and biophysical research communications - 18 Dec 1997

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

Abstract excerpt

A new method is described for detection of mutations in the lysosomal alpha-glucosidase gene (GAA) leading to Glycogen Storage Disease type II (GSDII). A key feature of the method is isolation and reverse transcription of mRNA followed by PCR amplification of lysosomal alpha-glucosidase cDNA with M13-extended primers. Dye labeled primers are used for cycle sequencing and an ABI PRISM 377 DNA sequencing system for...

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Identifiers

PMID: 9425285
DOI: 10.1006/bbrc.1997.7811

Genes

GAA

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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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Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.PMID 9425285Read ↗

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