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

Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH).

Prenatal diagnosis - 1 Jan 2002

zur Stadt Udo, Pruggmayer Michael, Jung Helena, Henter Jan-Inge, Schneider Marion, Kabisch Hartmut, Janka Gritta

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 Membrane Glycoproteins
Share to Mutation
Share to Perforin
Share to Pore Forming Cytotoxic Proteins

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

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 11810660
DOI: 10.1002/pd.231

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

Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH).PMID 11810660Read ↗

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

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

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

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

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

Hemophagocytosis in children: when genetics gets involved…Semantic proximity Read ↗

Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study.Semantic proximity Read ↗

[Familial Haemophagocytic Lymphohistiocytosis Occurs in A Fetus at His Third Trimester-A Case Report].Semantic proximity Read ↗

Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosisSemantic 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 ↗

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

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