Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.
about
The diversity of mutations and clinical outcomes for ELANE-associated neutropeniaA novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.Evaluation and management of patients with isolated neutropeniaNeutropenia in the newborn.Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report.Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cellsCharacterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiologyDifferent clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE geneHow we diagnose and treat neutropenia in adults.Severe congenital neutropenias.
P2860
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P2860
Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Cyclic neutropenia and severe ...... ermination by modifying genes.
@ast
Cyclic neutropenia and severe ...... ermination by modifying genes.
@en
Cyclic neutropenia and severe ...... ermination by modifying genes.
@nl
type
label
Cyclic neutropenia and severe ...... ermination by modifying genes.
@ast
Cyclic neutropenia and severe ...... ermination by modifying genes.
@en
Cyclic neutropenia and severe ...... ermination by modifying genes.
@nl
prefLabel
Cyclic neutropenia and severe ...... ermination by modifying genes.
@ast
Cyclic neutropenia and severe ...... ermination by modifying genes.
@en
Cyclic neutropenia and severe ...... ermination by modifying genes.
@nl
P2093
P2860
P356
P1476
Cyclic neutropenia and severe ...... ermination by modifying genes.
@en
P2093
Andrew A G Aprikyan
Audrey Anna Bolyard
David C Dale
Gary D Smith
Laurence A Boxer
Talia N Pindyck
Zhiqing Zhu
P2860
P304
P356
10.1002/PBC.22537
P577
2010-08-01T00:00:00Z