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Genetic analysis and clinical picture of severe congenital neutropenia in Israel.

Pediatric blood & cancer - 1 Jan 2015

Lebel Asaf, Yacobovich Joanne, Krasnov Tanya, Koren Ariel, Levin Carina, Kaplinsky Chaim, Ravel-Vilk Shoshana, Laor Ruth, Attias Dina, Ben Barak Ayelet, Shtager Dalia, Stein Jerry, Kuperman Amir, Miskin Hagit, Dgany Orly, Giri Neelam, Alter Blanche P, Tamary Hannah

Abstract excerpt

BACKGROUND: The relative frequency of mutated genes among patients with severe congenital neutropenia (SCN) may differ between various ethnic groups. To date, few population-based genetic studies have been reported. This study describes the genetic analysis of 32 Israeli patients with SCN. PROCEDURES: Clinical data were retrieved from the prospective Israeli Inherited Bone Marrow Failure Registry. Recruitment...

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Source

Identifiers

PMID: 25284454
DOI: 10.1002/pbc.25251

Genes

HAX1
ELANE

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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