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Article

The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.

Blood - 20 Jun 2013

Stepensky Polina, Saada Ann, Cowan Marianne, Tabib Adi, Fischer Ute, Berkun Yackov, Saleh Hani, Simanovsky Natalia, Kogot-Levin Aviram, Weintraub Michael, Ganaiem Hamam, Shaag Avraham, Zenvirt Shamir, Borkhardt Arndt, Elpeleg Orly, Bryant Nia J, Mevorach Dror

Abstract excerpt

Severe congenital neutropenia as well as primary myelofibrosis are rare in infancy. Elucidation of the underlying mechanism is important because it extends our understanding of the more common adult forms of these disorders. Using homozygosity mapping followed by exome sequencing, we identified a Thr224Asn mutation in the VPS45 gene in infants from consanguineous families who suffered from life-threatening...

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Source

Identifiers

PMID: 23599270
DOI: 10.1182/blood-2012-12-475566

Genes

VPS45

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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The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.PMID 23599270Read ↗

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