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Article

A novel MPIG6B gene mutation in an adolescent girl with congenital thrombocytopenia and myelofibrosis.

Current research in translational medicine - 1 Sept 2022

Wang Zhuo, Tao Fang, Yang Li, Song Na, Teng Juxian, Lu Wenjie, Qi Shanshan, Chen Zhi, Xiong Hao

Abstract excerpt

The MPIG6B gene, which encodes G6b-B, regulates platelet production, aggregation, and activation. Loss-of-function of G6b-B can cause thrombocytopenia, myelofibrosis, and anemia in both humans and mice. Several pathogenic MPIG6B mutations have been reported, such as c.324C>A (p.C108*), c.61_61+1dup (p.Ala21GlyfsX159), c.149dup (p.Ala52GlyfsX128), G6b c.469G>A (p.Gly157Arg) c.392delC (p.P134Lfs*10), and...

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Identifiers

PMID: 35940081
DOI: 10.1016/j.retram.2022.103355

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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