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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/clinical-functional-and-genetic-analysis-of-twenty-four-patients-with-chronic/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Cécile Martel,Michelle Mollin,Sylvain Beaumel,Jean Paul Brion,Charles Coutton,Véronique Satre,Gaëlle Vieville,Mary Callanan,Christine Lefebvre,Alexandra Salmon,Anne Pagnier,Dominique Plantaz,C. Bost-Bru,Laurence Eitenschenck,I. Durieu,D. Floret,Claire Galambrun,Hérvè Chambost,Gérard Michel,Jean‐Louis Stephan,Olivier Hermine,Stéphane Blanche,Nathalie Blot,Hervé Rubie,Guillaume Pouessel,Stephanie Drillon-Haus,Bernard Conrad,Klara M. Posfay‐Barbe,Zuzana Havlíčeková,Tamara Voskresenky-Baricic,Jadranka Kelečić,Maria Cristina Arriazu,Luis Garcı́a,L. Sfaihi,Pierre Bordigoni,Marie José Stasia |
| Citations | 21 |
| DOI | 10.1007/s10875-012-9698-8 |
| Fields | Biochemistry, Genetics and Molecular Biology,Immunology and Microbiology,Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2027094818 |
| PMID | 22562447 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Zuzana Havlíčeková](https://scholariq.org/researchers/zuzana-havlicekova/)

## Paper primary topic

- [Neutrophil, Myeloperoxidase and Oxidative Mechanisms](https://scholariq.org/topics/neutrophil-myeloperoxidase-and-oxidative-mechanisms/)

## Paper topics

- [Neutrophil, Myeloperoxidase and Oxidative Mechanisms](https://scholariq.org/topics/neutrophil-myeloperoxidase-and-oxidative-mechanisms/)
- [S100 Proteins and Annexins](https://scholariq.org/topics/s100-proteins-and-annexins/)
- [Nitric Oxide and Endothelin Effects](https://scholariq.org/topics/nitric-oxide-and-endothelin-effects/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.