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

Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.

Leukemia research - 1 Aug 2010

Balta Gunay, Okur Hamza, Unal Sule, Yarali Nese, Gunes Adalet Meral, Unal Selma, Turker Meral, Guler Elif, Ertem Mehmet, Albayrak Meryem, Patiroglu Turkan, Gurgey Aytemiz

Abstract excerpt

Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Ferritins
Share to Fibrinogen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Infant

Share to Infant, Newborn

Share to Lymphohistiocytosis, Hemophagocytic

Share to Prognosis

Source

Identifiers

PMID: 20197201
DOI: 10.1016/j.leukres.2010.02.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20197201-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.PMID 20197201Read ↗

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.Semantic proximity Read ↗

Genetics of Primary Hemophagocytic Lymphohistiocytosis.Semantic proximity Read ↗

Hemophagocytic Lymphohistiocytosis: Lessons Learned from the Dark Side.Semantic proximity Read ↗

Approaching hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Genetics of Familial Hemophagocytic Lymphohistiocytosis (HLH).Semantic proximity Read ↗

Hemophagocytic Lymphohistiocytosis in Adolescents and Young Adults: Genetic Predisposition and Secondary Disease.Semantic proximity Read ↗

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

Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System FunctioningSemantic proximity Read ↗

Familial Hemophagocytic Lymphohistiocytosis.Semantic proximity Read ↗

Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico.Semantic proximity Read ↗

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

Pathophysiology and epidemiology of hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

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