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

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

1 Feb 2004

Abstract excerpt

N The pathogenicity of two previously reported PRF1 mutations, A91V and N252S, could not be conclusively confirmed in this population.

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune and Inflammatory Disorders Research
Share to Immune Cell Function and Interaction
Share to Parvovirus B19 Infection Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 14757862
DOI: 10.1136/jmg.2003.011528

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosisPMID 14757862Read ↗

PRF1 gene mutation in a Saudi patient with haemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Human perforin mutations and susceptibility to multiple primary cancersSemantic proximity Read ↗

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.Semantic proximity Read ↗

Defective Natural Killer Cell Function in Patients with Hemophagocytic Lymphohistiocytosis and in First Degree RelativesSemantic proximity Read ↗

A665G mutation in PRF1 in a Turkish infant with familial hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Identification of germline variants in adults with hemophagocytic lymphohistiocytosisSemantic proximity Read ↗

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosisSemantic proximity Read ↗

Familial Hemophagocytic Lymphohistiocytosis Due to PRF1 Mutation Triggered by Enterovirus.Semantic proximity Read ↗

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense MutationsSemantic proximity Read ↗

Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G.Semantic proximity Read ↗

Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation.Semantic proximity Read ↗

A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

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