A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

Tesi, Bianca; Rascon, Jelena; Chiang, Samuel C C; Burnyte, Birute; Löfstedt, Alexandra; Fasth, Anders; Heizmann, Miriam; Juozapaite, Sandra; Kiudeliene, Rosita; Kvedaraite, Egle; Miseviciene, Valdone; Muleviciene, Audrone; Müller, Martha-Lena; Nordenskjöld, Magnus; Matuzeviciene, Reda; Samaitiene, Ruta; Speckmann, Carsten; Stankeviciene, Sigita; Zekas, Vytautas; Voss, Matthias; Ehl, Stephan; Vaiciene-Magistris, Nerija; Henter, Jan-Inge; Meeths, Marie; Bryceson, Yenan T.
J Allergy Clin Immunol; 142(1): 317-321.e8, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29522846