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Article

Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia.

Haematologica - 1 Oct 2009

Liu Kun, Martini Maurizio, Rocca Bianca, Amos Christopher I, Teofili Luciana, Giona Fiorina, Ding Jianmin, Komatsu Hirokazu, Larocca Luigi M, Skoda Radek C

Abstract excerpt

BACKGROUND: Hereditary thrombocythemia is a rare disease characterized by increased megakaryopoiesis and overproduction of platelets. Germ line mutations have been identified in the genes for thrombopoietin (THPO) and its receptor, MPL. A clustering of familial cases with the MPL-G1073A mutation that results in a serine to asparagine substitution (S505N) has been recently reported in Italy. Here we performed...

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Source

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Identifiers

PMID: 19608689
DOI: 10.3324/haematol.2009.005918
PMCID: PMC2754952

Genes

MPL
THPO

Variants

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.

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