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1. (WO2000028079) GENETIC VARIATION ASSOCIATED WITH APLASTIC ANEMIA, AND DIAGNOSIS AND THERAPY BASED THEREON
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2000/028079    International Application No.:    PCT/IB1999/001794
Publication Date: 18.05.2000 International Filing Date: 08.11.1999
Chapter 2 Demand Filed:    08.06.2000    
IPC:
C07K 14/47 (2006.01), C12N 15/85 (2006.01), C12Q 1/68 (2006.01)
Applicants: GEMINI GENOMICS AB [SE/SE]; Kungsgangsvagen 29, S-751 06 Uppsala (SE) (For All Designated States Except US).
DAHL, Niklas [SE/SE]; (SE) (For US Only).
GUSTAVSSON, Peter [SE/SE]; (SE) (For US Only).
DRAPTCHINSKAIA, Natalia [RU/SE]; (SE) (For US Only)
Inventors: DAHL, Niklas; (SE).
GUSTAVSSON, Peter; (SE).
DRAPTCHINSKAIA, Natalia; (SE)
Agent: SCHLICH, George, William; Mathys & Squire, 100 Gray's Inn Road, London WC1X 8AL (GB)
Priority Data:
60/107,613 09.11.1998 US
60/118,664 26.01.1999 US
Title (EN) GENETIC VARIATION ASSOCIATED WITH APLASTIC ANEMIA, AND DIAGNOSIS AND THERAPY BASED THEREON
(FR) VARIATION GENETIQUE ASSOCIEE A L'ANEMIE APLASIQUE, ET APPLICATIONS DIAGNOSTIQUES ET THERAPEUTIQUES BASEES SUR CETTE VARIATION
Abstract: front page image
(EN)The present invention relates to identification of a gene that is inactivated in an aplastic anemia. In particular, the invention concerns mutations that disrupt a ribosomal protein (RP), preferably RP S19, in Diamond-Blackfan Anemia (DBA). Recombinant nucleic acids encoding mutant forms of DBA, oligonucleotides specific for such mutations, and diagnostic and therapeutic applications related to these discoveries, are also contemplated.
(FR)La présente invention concerne l'identification d'un gène qui est inactivé dans le cas d'une anémie aplasique. L'invention concerne, en particulier, des mutations qui dérèglent une protéine ribosomale, de préférence RP S19, dans le cas de l'anémie de Blackfan-Diamond. L'invention concerne également des acides nucléiques de recombinaison codant des formes mutantes de l'anémie de Blackfan-Diamond, des oligonucléotides spécifiques de ces mutations, ainsi que les applications diagnostiques et thérapeutiques associées à ces découvertes.
Designated States: AE, AL, AM, AT, AU, AZ, BA, BB, BG, BR, BY, CA, CH, CN, CR, CU, CZ, DE, DK, DM, EE, ES, FI, GB, GD, GE, HR, HU, ID, IL, IN, IS, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MD, MG, MK, MN, MW, MX, NO, NZ, PL, PT, RO, RU, SD, SE, SG, SI, SK, SL, TJ, TM, TR, TT, TZ, UA, UG, US, UZ, VN, YU, ZA, ZW.
African Regional Intellectual Property Organization (GH, GM, KE, LS, MW, SD, SL, SZ, TZ, UG, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, MD, RU, TJ, TM)
European Patent Office (AT, BE, CH, CY, DE, DK, ES, FI, FR, GB, GR, IE, IT, LU, MC, NL, PT, SE)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GW, ML, MR, NE, SN, TD, TG).
Publication Language: English (EN)
Filing Language: English (EN)