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

Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)G-->C and IVS8(+2)T-->G causing pyruvate kinase deficiency.

British journal of haematology - 1 Sept 2002

Manco Licínio, Bento Celeste, Ribeiro M Letícia, Tamagnini Gabriel

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence
Share to Child
Share to Follow-Up Studies

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

Share to Molecular Sequence Data

Share to Pyruvate Kinase

Share to RNA, Messenger

Share to RNA Splicing

Source

Identifiers

PMID: 12181074

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

Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)G-->C and IVS8(+2)T-->G causing pyruvate kinase deficiency.PMID 12181074Read ↗

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.Semantic proximity Read ↗

Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.Semantic proximity Read ↗

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.Semantic proximity Read ↗

Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.Semantic proximity Read ↗

Molecular Characterization of PK-LR Gene in Pyruvate Kinase–Deficient Italian PatientsSemantic proximity Read ↗

Clinical outcome and genotype analysis of 4 Chinese children with pyruvate kinase deficiencySemantic proximity Read ↗

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.Semantic proximity Read ↗

Complete genomic sequence of the human PK-L/R-gene includes four intragenic polymorphisms defining different haplotype backgrounds of normal and mutant PK-genes.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 ↗

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.Semantic proximity Read ↗

A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.Semantic proximity Read ↗

Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia.Semantic proximity Read ↗

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