(Q34484509)

2 August 2017

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype (English)

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severe congenital neutropenia

2 August 2017

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11

Stephen W Scherer

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2 August 2017

Sergio L Pereira

10

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Kym M Boycott

12

object named as

Kym M Boycott

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2 August 2017

14

FORGE Canada Consortium

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2 August 2017

Bridget A Fernandez

1

1 reference

2 August 2017

Jane S Green

2

1 reference

2 August 2017

Ford Bursey

3

1 reference

2 August 2017

Brendan Barrett

4

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2 August 2017

Andrée MacMillan

5

1 reference

2 August 2017

Sarah McColl

6

1 reference

2 August 2017

Sara Fernandez

7

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2 August 2017

Proton Rahman

8

1 reference

2 August 2017

Krista Mahoney

9

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2 August 2017

Michael O Woods

13

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2 August 2017

language of work or name

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21 November 2012

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2 August 2017

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2 August 2017

13

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2 August 2017

111

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https://scigraph.springernature.com/pub.10.1186/1471-2350-13-111

2 August 2017

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cites work

Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Digenic mutations in severe congenital neutropenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

BFAST: an alignment tool for large scale genome resequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Glucose-6-phosphatase catalytic subunit gene family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

HomozygosityMapper--an interactive approach to homozygosity mapping

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

A syndrome with congenital neutropenia and mutations in G6PC3

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Identification and characterisation of a new human glucose-6-phosphatase isoform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

SIFT: Predicting amino acid changes that affect protein function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Association of glycogen storage disease 1b and Crohn disease: results of a North American survey

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Is Crohn's disease an immunodeficiency? A hypothesis suggesting possible early events in the pathogenesis of Crohn's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Treatment of enteritis in chronic granulomatous disease with granulocyte colony stimulating factor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Leucocyte adhesion deficiency presenting as a chronic ileocolitis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Crohn's disease associated with autoimmune neutropenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3523052

Mutations in the G6PC3 gene cause Dursun syndrome.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-13-111

Chediak-Higashi syndrome with intestinal complication. Report of a case

21 January 2018

1 reference

12 December 2020

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome

1 reference

12 December 2020

Cyclic neutropenia in Crohn's ileocolitis: efficacy of granulocyte colony-stimulating factor

1 reference

12 December 2020

A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

1 reference

12 December 2020

A case of syndromic neutropenia and mutation in G6PC3

1 reference

12 December 2020

Two cases of syndromic neutropenia with a report of novel mutation in G6PC3

1 reference

12 December 2020

Neutropenia congénita grave: análisis de las características clínicas, estudios diagnósticos, tratamiento y seguimiento a largo plazo

1 reference

12 December 2020

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-13-111

1 reference

Dimensions Publication ID

2 August 2017

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1 reference

2 August 2017

1 reference