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Article

[Genetic diagnosis of a patient with non-syndromic variants of congenital neutropenia].

Zhonghua nei ke za zhi - 1 Nov 2011

Xue Sheng-li, Chen Yan, Qiu Qiao-cheng, Feng Yu-feng, Dai Lan, Qiao Man, Wu De-pei

Abstract excerpt

OBJECTIVE: To explore the procedures and methods for genetic diagnosis in one non-syndromic variants of congenital neutropenia (NSVCN) patient and its pathogenic mutation. METHODS: Genomic DNA was prepared from one NSVCN patient who had progressed to chronic myelomonocytic leukemia and ELA2, HAX1, WASp and GFI1 genes were amplified and sequenced. RESULTS: A novel compound heterogeneous mutation consisting of two...

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Source

Identifiers

PMID: 22333123

Genes

HAX1
GFI1

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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