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

Sequence of two alleles responsible for Gaucher disease.

DNA and cell biology - 1 May 1990

Hong C M, Ohashi T, Yu X J, Weiler S, Barranger J A

Abstract excerpt

Enzymatically amplified RNA transcripts were used to analyze the full coding region of the glucocerebrosidase gene from Gaucher disease patients. Two previously undescribed mutations were identified. One mutation consists of a single-base substitution in three different codons: codon 444, Leu (CTG) to Pro (CCG); codon 456, Ala (GCT) to Pro (CCT); and codon 460, Val (GTG) to Val (GTC). This mutant is called...

Topics

Amino Acid Sequence
Base Sequence
Cloning, Molecular
Gaucher Disease
Genomic Library
Glucosidases
Glucosylceramidase
Humans
Molecular Sequence Data
Mutation
Nucleic Acid Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Poly A

RNA, Messenger

Source

Identifiers

PMID: 1972019
DOI: 10.1089/dna.1990.9.233

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1972019-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sequence of two alleles responsible for Gaucher disease.PMID 1972019Read ↗

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

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

High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.Semantic proximity Read ↗

Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.Semantic proximity Read ↗

A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.Semantic proximity Read ↗

Glucocerebrosidase mutations in Gaucher disease.Semantic proximity Read ↗

Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).Semantic proximity Read ↗

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.Semantic proximity Read ↗

Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships.Semantic proximity Read ↗

Complex alleles of the acid beta-glucosidase gene in Gaucher disease.Semantic proximity Read ↗

55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.Semantic proximity Read ↗

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.Semantic proximity Read ↗

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