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Article

Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.

American journal of human genetics - 1 Oct 1992

He G S, Grabowski G A

Abstract excerpt

Gaucher disease is the most frequent lysosomal storage disease and the most prevalent Jewish genetic disease. About 30 identified missense mutations are causal to the defective activity of acid beta-glucosidase in this disease. cDNAs were characterized from a moderately affected 9-year-old Ashken...

Topics

Aged
Base Sequence
Child
Child, Preschool
Exons
Female
Gaucher Disease
Gene Deletion
Genes
Genotype
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Oligodeoxyribonucleotides

Pedigree

Polymerase Chain Reaction

Pseudogenes

Source

Open in PubMed Open full text

Identifiers

PMID: 1415223
PMCID: PMC1682814

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1415223-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.PMID 1415223Read ↗

Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany.Semantic proximity Read ↗

Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.Semantic proximity Read ↗

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Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.Semantic proximity Read ↗

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Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.Semantic proximity Read ↗

Gaucher Disease: The Origins of the Ashkenazi Jewish N370S and 84GG Acid β-Glucosidase MutationsSemantic proximity Read ↗

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