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

New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.

Blood - 1 Jul 1992

Beutler E, Westwood B, Prchal J T, Vaca G, Bartsocas C S, Baronciani L

Abstract excerpt

Seven new mutations that produce glucose 6 phosphate dehydrogenase (G6PD) deficiency are described. Three are in variants that were biochemically characterized and described previously, while four were found in samples that had not been characterized biochemically. Several of the mutations affect the amino acids that are mutated in other G6PD variants. As had been noted previously, variants that are associated...

Topics

Amino Acid Sequence
Base Sequence
Chile
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Greece
Humans
Japan
Mexico
Mutation
United States

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1611091

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1611091-2026-08-29.1. 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

New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.PMID 1611091Read ↗

New glucose-6-phosphate dehydrogenase mutations from various ethnic groupsSemantic proximity Read ↗

Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups.Semantic proximity Read ↗

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.Semantic proximity Read ↗

Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.Semantic proximity Read ↗

G6PD Nara: a new class 1 glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion.Semantic proximity Read ↗

DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants.Semantic proximity Read ↗

G6PD-MutDB: a mutation and phenotype database of glucose-6-phosphate (G6PD) deficiency.Semantic proximity Read ↗

Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism.Semantic proximity Read ↗

Study of glucose-6-phosphate dehydrogenase: history and molecular biology.Semantic proximity Read ↗

New WHO classification of genetic variants causing G6PD deficiencySemantic proximity Read ↗

Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants.Semantic proximity Read ↗

Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classificationSemantic proximity Read ↗

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