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Article

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Molecular genetics and metabolism - 1 Mar 2017

Ferreira Carlos R, Chen Dong, Abraham Shirley M, Adams David R, Simon Karen L, Malicdan May C, Markello Thomas C, Gunay-Aygun Meral, Gahl William A

Abstract excerpt

Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storage pool deficiency due to mutations in GFI1B, a zinc finger protein known to act as a...

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Identifiers

PMID: 28041820
DOI: 10.1016/j.ymgme.2016.12.006
PMCID: PMC5346474

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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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