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Article

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

Journal of medical genetics - 1 Jan 2008

Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter J-I, Griffiths G, Santoro A, Filipovich A, Aricò M

Abstract excerpt

BACKGROUND: PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2). Genotype-phenotype analysis, previously hampered by limited numbers of patients, was for the first time performed by data pooling from five large centres worldwide. PATIENTS AND METHODS...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Killer Cells, Natural

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Share to Mutation, Missense

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Source

Identifiers

PMID: 17873118
DOI: 10.1136/jmg.2007.052670

Genes

FHL2
PRF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17873118-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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