Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

European journal of human genetics : EJHG - 1 Apr 2011

Zampieri Stefania, Buratti Emanuele, Dominissini Silvia, Montalvo Anna Lisa, Pittis Maria Gabriela, Bembi Bruno, Dardis Andrea

Abstract excerpt

Glycogen-storage disease type II is an autosomal recessive-inherited disorder due to the deficiency of acid α-glucosidase. A large number of mutations in the acid α-glucosidase gene have been described to date. Among them, ~15% are variations that may affect mRNA splicing process. In this study, we have for the first time comprehensively reviewed the available information on splicing mutations of the acid...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to alpha-Glucosidases
Share to Cell Line

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Computational Biology

Share to Glycogen Storage Disease Type II

Share to Introns

Share to Mutagenesis, Site-Directed

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 21179066
DOI: 10.1038/ejhg.2010.188
PMCID: PMC3060314

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.PMID 21179066Read ↗

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.Semantic proximity Read ↗

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.Semantic proximity Read ↗

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.Semantic proximity Read ↗

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.Semantic proximity Read ↗

Molecular genetics of late onset glycogen storage disease II in Italy.Semantic proximity Read ↗

Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.Semantic proximity Read ↗

Glycogen storage disease type Ia: molecular study in Brazilian patients.Semantic proximity Read ↗

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.Semantic proximity Read ↗

Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.Semantic proximity Read ↗

A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.Semantic proximity Read ↗

Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.Semantic proximity Read ↗

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.