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

Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.

Leukemia research - 1 Jun 2008

Okur Hamza, Balta Gunay, Akarsu Nurten, Oner Ahmet, Patiroglu Turkan, Bay Ali, Sayli Tulin, Unal Sule, Gurgey Aytemiz

Abstract excerpt

The aim of this study was to elucidate the pathologic sequence changes and associated clinical phenotypes in 9 new patients showing homozygosity for perforin gene among a total of 37 (24%) Turkish FHL families studied by linkage analysis. These 9 unrelated patients (5M/4F) were coming from consanguineous families and their presentation ages of systemic symptoms were ranged from birth to 15 years. Direct...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Homozygote

Share to Lymphohistiocytosis, Hemophagocytic

Share to Mutation, Missense

Share to Perforin

Share to Turkey

Source

Identifiers

PMID: 18190960
DOI: 10.1016/j.leukres.2007.11.033

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.PMID 18190960Read ↗

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.Semantic proximity Read ↗

The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.Semantic proximity Read ↗

Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan.Semantic proximity Read ↗

Perforin Gene Defects in Familial Hemophagocytic LymphohistiocytosisSemantic proximity Read ↗

Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.Semantic proximity Read ↗

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotypeSemantic proximity Read ↗

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.Semantic proximity Read ↗

Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.Semantic proximity Read ↗

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

Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients.Semantic proximity Read ↗

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

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