Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene

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Genetic predisposition syndromes: when should they be considered in the work-up of MDS?

P2860

Q33420216-3897F722-7261-47A3-9052-42E005B86B75

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Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 27 February 2014

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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Different clinical phenotypes ...... ame mutation of the ELANE gene

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Different clinical phenotypes ...... me mutation of the ELANE gene.

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Different clinical phenotypes ...... ame mutation of the ELANE gene

@en

Different clinical phenotypes ...... me mutation of the ELANE gene.

@nl

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Different clinical phenotypes ...... ame mutation of the ELANE gene

@en

Different clinical phenotypes ...... me mutation of the ELANE gene.

@nl

P1476

Different clinical phenotypes ...... ame mutation of the ELANE gene

@en

P2093

In Sang Jeon

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Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.

Mutations in the neutrophil elastase gene in cyclic and congenital neutropenia.

The role of apoptosis in the pathophysiology of chronic neutropenias associated with bone marrow failure.

Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia.

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.

Severe congenital neutropenia.

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

[Molecular analysis of two cases of severe congenital neutropenia].

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452-455

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scholarly article

case report

P356

10.3346/JKMS.2014.29.3.452

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P433

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P478

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Hye Kyung Cho

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2014-02-27T00:00:00Z

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260684760

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24616599

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birth defect

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3945145

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Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene

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P2860

P2860

Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene

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type

label

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P932