Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

BACKGROUND: The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated. RESULTS: The study performed independent analyses of BTNL2 polymorphism, clinical phenotypes, a...

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Bibliografiset tiedot
Julkaisussa:Orphanet J Rare Dis
Päätekijät: Pacheco, Yves, Calender, Alain, Israël-Biet, Dominique, Roy, Pascal, Lebecque, Serge, Cottin, Vincent, Bouvry, Diane, Nunes, Hilario, Sève, Pascal, Pérard, Laurent, Devouassoux, Gilles, Freymond, Nathalie, Khouatra, Chahira, Wallaert, Benoît, Lamy, Raphaelle, Elsensohn, Mad-Hélénie, Bardel, Claire, Valeyre, Dominique
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2016
Aiheet:
Research
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5135764/
https://ncbi.nlm.nih.gov/pubmed/27914482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0546-4
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