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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.
Martel C, Mollin M, Beaumel S, Brion JP, Coutton C, Satre V, Vieville G, Callanan M, Lefebvre C, Salmon A, Pagnier A, Plantaz D, Bost-Bru C, Eitenschenck L, Durieu I, Floret D, Galambrun C, Chambost H, Michel G, Stephan JL, Hermine O, Blanche S, Blot N, Rubié H, Pouessel G, Drillon-Haus S, Conrad B, Posfay-Barbe KM, Havlicekova Z, Voskresenky-Baricic T, Jadranka K, Arriazu MC, Garcia LA, Sfaihi L, Bordigoni P, Stasia MJ. Martel C, et al. Among authors: drillon haus s. J Clin Immunol. 2012 Oct;32(5):942-58. doi: 10.1007/s10875-012-9698-8. Epub 2012 May 5. J Clin Immunol. 2012. PMID: 22562447
Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.
Mollin M, Beaumel S, Vigne B, Brault J, Roux-Buisson N, Rendu J, Barlogis V, Catho G, Dumeril C, Fouyssac F, Monnier D, Gandemer V, Revest M, Brion JP, Bost-Bru C, Jeziorski E, Eitenschenck L, Jarrasse C, Drillon Haus S, Houachée-Chardin M, Hancart M, Michel G, Bertrand Y, Plantaz D, Kelecic J, Traberg R, Kainulainen L, Fauré J, Fieschi F, Stasia MJ. Mollin M, et al. Among authors: drillon haus s. Clin Exp Immunol. 2021 Feb;203(2):247-266. doi: 10.1111/cei.13520. Epub 2020 Oct 12. Clin Exp Immunol. 2021. PMID: 32954498 Free PMC article.