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Article

A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.

Journal of clinical immunology - 1 Nov 2013

Alangari Abdullah A, Alsultan Abdulrahman, Osman Mohamed Elfaki, Anazi Shamsa, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet. METHODS: Autozygosity mapping on two branches of an extended multiplex consanguineous family presenting with cyclic neutropenia or severe congenital neutropenia to look for candidate gene, followed by candidate gene selection and sequencing. RESULTS: A single autozygous interval on Chr17:33,901,938-45,675,414...

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PMID: 24105461
DOI: 10.1007/s10875-013-9945-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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