(Q57217398)

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Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22562447%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes (English)

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31 January 2020

chronic granulomatous disease

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Charles Coutton

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31 January 2020

Véronique Satre

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31 January 2020

Christine Lefebvre

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31 January 2020

Olivier Hermine

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31 January 2020

Klara M Posfay-Barbe

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31 January 2020

Claire Galambrun

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Claire Galambrun

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31 January 2020

Pierre Bordigoni

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31 January 2020

Isabelle Durieu

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Isabelle Durieu

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31 January 2020

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Cécile Martel

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31 January 2020

Michelle Mollin

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31 January 2020

Sylvain Beaumel

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31 January 2020

Jean Paul Brion

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31 January 2020

Gaëlle Vieville

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31 January 2020

Mary Callanan

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31 January 2020

Alexandra Salmon

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31 January 2020

Anne Pagnier

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31 January 2020

Dominique Plantaz

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31 January 2020

Cécile Bost-Bru

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31 January 2020

Laurence Eitenschenck

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31 January 2020

Daniel Floret

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31 January 2020

Hervé Chambost

18

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31 January 2020

Gérard Michel

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31 January 2020

Jean-Louis Stephan

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31 January 2020

Stéphane Blanche

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31 January 2020

Nathalie Blot

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31 January 2020

Hervé Rubié

24

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31 January 2020

Guillaume Pouessel

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31 January 2020

Stephanie Drillon-Haus

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31 January 2020

Bernard Conrad

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31 January 2020

Zuzana Havlicekova

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31 January 2020

Tamara Voskresenky-Baricic

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31 January 2020

Kelecic Jadranka

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31 January 2020

Maria Cristina Arriazu

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31 January 2020

Luis Alberto Garcia

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31 January 2020

Marie José Stasia

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31 January 2020

Lamia Sfaihi

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31 January 2020

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5 May 2012

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31 January 2020

Journal of Clinical Immunology

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31 January 2020

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31 January 2020

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31 January 2020

942-958

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31 January 2020

https://scigraph.springernature.com/pub.10.1007/s10875-012-9698-8

0 references

Genetics, biology and clinical management of myeloid cell primary immune deficiencies: chronic granulomatous disease and leukocyte adhesion deficiency

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Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)

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Residual NADPH oxidase and survival in chronic granulomatous disease

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Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease

1 reference

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Activation of O2(-)-generating oxidase in an heterologous cell-free system derived from Epstein-Barr-virus-transformed human B lymphocytes and bovine neutrophils. Application to the study of defects in cytosolic factors in chronic granulomatous dise

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21 January 2018

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Role of putative second transmembrane region of Nox2 protein in the structural stability and electron transfer of the phagocytic NADPH oxidase

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21 January 2018

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21 January 2018

First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families

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Lymphohistiocytic activation syndrome and Burkholderia cepacia complex infection in a child revealing chronic granulomatous disease and chromosomal integration of the HHV-6 genome

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.

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21 January 2018

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation

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Role of histidines identified by mutagenesis in the NADPH oxidase-associated H+ channel

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21 January 2018

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

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21 January 2018

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21 January 2018

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21 January 2018

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Identifiers

10.1007/S10875-012-9698-8

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Europe PubMed Central

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31 January 2020

PubMed publication ID

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Europe PubMed Central

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31 January 2020

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