Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.

doi:10.1093/hmg/3.12.2231

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Article

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.

Human molecular genetics - 1 Dec 1994

Huie M L, Chen A S, Tsujino S, Shanske S, DiMauro S, Engel A G, Hirschhorn R

Abstract excerpt

Two newly identified splice site mutations (IVS1 -13T-->G and IVS10 +1GT-->CT) were found in a patient with adult onset of the autosomal recessive disorder glycogen storage disease type II (GSDII). The IVS1 -13T-->G transversion in the acceptor splice site was found on one allele in over two thirds of adult onset GSDII patients studied (28/41), but was not seen in 58 normal or 12 infantile onset GSDII...

Topics

Adult
Age of Onset
Alleles
Base Sequence
Case-Control Studies
Chromosomes, Human, Pair 17
DNA Transposable Elements
DNA, Complementary
Female
Glycogen Storage Disease Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Molecular Sequence Data

Mutation

RNA Splicing

RNA, Messenger

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 7881425
DOI: 10.1093/hmg/3.12.2231

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7881425-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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