(Q42938361)

11 November 2017

Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia (English)

1 reference

11 November 2017

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6

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11 November 2017

Marina Lanciotti

1

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author name string

Stefania Indaco

2

1 reference

11 November 2017

Sonia Bonanomi

3

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11 November 2017

Tiziana Coliva

4

1 reference

11 November 2017

Elena Mastrodicasa

5

1 reference

11 November 2017

Michaela Calvillo

7

1 reference

11 November 2017

Carlo Dufour

8

1 reference

11 November 2017

language of work or name

1 reference

1 January 2010

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11 November 2017

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11 November 2017

95

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11 November 2017

1

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11 November 2017

168-169

1 reference

Molecular basis of congenital neutropenia

11 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805731

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805731

Neutrophil elastase in cyclic and severe congenital neutropenia

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805731

Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805731

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805731

Severe congenital neutropenia: a negative synergistic effect of multiple mutations ofELANE(ELA2) gene

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805731

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20065084

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Compound heterozygousHAX1mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20065084

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3324/HAEMATOL.2009.015370

1 reference

11 November 2017

1 reference

11 November 2017

PubMed publication ID

20065084

1 reference