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

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

The Journal of clinical investigation - 1 Apr 1995

Baronciani L, Beutler E

Abstract excerpt

DNA analysis was performed on 30 unrelated patients with hereditary nonspherocytic hemolytic anemia (HNSHA) who had been found to be pyruvate kinase (PK) deficient by enzyme assay. 19 different mutations were identified among 58 of the 60 alleles at risk. 13 of these were missense mutations that caused single amino acid changes. Included were the following nucleotide substitutions: 401A, 464C, 993A, 1022C, 1076A,...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Exons
Share to Liver

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Models, Genetic

Share to Molecular Sequence Data

Share to Mutation

Share to Point Mutation

Share to Polymorphism, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 7706479
DOI: 10.1172/JCI117846
PMCID: PMC295683

Genes

PKLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.PMID 7706479Read ↗

Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.Semantic proximity Read ↗

Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.Semantic proximity Read ↗

Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia.Semantic proximity Read ↗

Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.Semantic proximity Read ↗

Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population.Semantic proximity Read ↗

Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.Semantic proximity Read ↗

Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.Semantic proximity Read ↗

Red blood cell PK deficiency: An update of PK-LR gene mutation database.Semantic proximity Read ↗

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.Semantic proximity Read ↗

Mutations in pyruvate kinase.Semantic proximity Read ↗

Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.Semantic proximity Read ↗

Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes.Semantic proximity Read ↗

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