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Machine translation
1. (WO2011136638) NEW ASSAY FOR DETECTING OR PREDICTING THORACIC AORTIC ANEURYSMS
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2011/136638    International Application No.:    PCT/NL2010/050244
Publication Date: 03.11.2011 International Filing Date: 28.04.2010
IPC:
C12Q 1/68 (2006.01)
Applicants: ERASMUS UNIVERSITY MEDICAL CENTER ROTTERDAM [NL/NL]; Dr. Molewaterplein 50 NL-3015 GE Rotterdam (NL) (For All Designated States Except US).
BERTOLI AVELLA, Aida Maria [NL/NL]; (NL) (For US Only)
Inventors: BERTOLI AVELLA, Aida Maria; (NL)
Agent: Hatzmann, M.J.; Vereenigde Johan de Wittlaan 7 NL-2517 JR Den Haag (NL)
Priority Data:
Title (EN) NEW ASSAY FOR DETECTING OR PREDICTING THORACIC AORTIC ANEURYSMS
(FR) NOUVEL DOSAGE DE DÉTECTION OU DE PRÉDICTION D'ANÉVRISMES AORTIQUES THORACIQUES
Abstract: front page image
(EN)The invention relates to a method for diagnosing the cause or the predisposition for thoracic aortic aneurysms and/or other arterial aneurysm by testing a sample of a subject for a mutation in the SMAD3 gene and/or SMAD3 protein wherein said mutation is chosen from the group of 1157C>T, 1080C>T, 1039-1040 delAT, (on protein level Arg287Trp, Thr261Ile, a premature protein termination at position 309, respectively) and combinations thereof.
(FR)L'invention concerne un procédé de diagnostic de la cause d'anévrismes aortiques thoraciques et/ou d'autres anévrismes artériels, ou d'une prédisposition à ceux-ci par analyse d'un échantillon d'un sujet pour rechercher une mutation dans le gène SMAD3 et/ou la protéine SMAD3, ladite mutation étant choisie dans le groupe de 1157C>T, 1080C>T, 1039-1040 delAT, (au niveau protéique Arg287Trp, Thr261Ile, une terminaison protéique prématurée à la position 309, respectivement) et des combinaisons de ceux-ci.
Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IS, JP, KE, KG, KM, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PE, PG, PH, PL, PT, RO, RS, RU, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW.
African Regional Intellectual Property Organization (BW, GH, GM, KE, LR, LS, MW, MZ, NA, SD, SL, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, MD, RU, TJ, TM)
European Patent Office (AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, ML, MR, NE, SN, TD, TG).
Publication Language: English (EN)
Filing Language: English (EN)