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Article

Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.

European journal of haematology - 1 Mar 2017

Melhem Motasem, Abu-Farha Mohamed, Antony Dinu, Madhoun Ashraf Al, Bacchelli Chiara, Alkayal Fadi, AlKhairi Irina, John Sumi, Alomari Mohamad, Beales Phillip L, Alsmadi Osama

Abstract excerpt

OBJECTIVE: To characterize the underlying genetic and molecular defects in a consanguineous family with lifelong blood disorder manifested with thrombocytopenia (low platelets count) and anemia. METHODS: Genetic linkage analysis, exome sequencing, and functional genomics were carried out to identify and characterize the defective gene. RESULTS: We identified a novel truncation mutation (p.C108*) in chromosome 6...

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PMID: 27743390
DOI: 10.1111/ejh.12819

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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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