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1. (WO1998049324) CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE I
Latest bibliographic data on file with the International Bureau

Pub. No.: WO/1998/049324 International Application No.: PCT/EP1998/002593
Publication Date: 05.11.1998 International Filing Date: 30.04.1998
Chapter 2 Demand Filed: 13.11.1998
IPC:
A61K 38/00 (2006.01) ,C12N 9/90 (2006.01)
A HUMAN NECESSITIES
61
MEDICAL OR VETERINARY SCIENCE; HYGIENE
K
PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
38
Medicinal preparations containing peptides
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N
MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9
Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
90
Isomerases (5.)
Applicants:
GENZYME LIMITED [GB/GB]; 37 Hollands Road Haverhill Suffolk CB9 8PU, GB (AL, AM, AT, AU, AZ, BA, BB, BE, BF, BG, BJ, BR, BY, CA, CF, CG, CH, CI, CM, CN, CU, CY, CZ, DE, DK, EE, ES, FI, FR, GA, GB, GE, GH, GM, GN, GR, HU, IE, IL, IS, IT, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MC, MD, MG, MK, ML, MN, MR, MW, MX, NE, NL, NO, NZ, PL, PT, RO, RU, SD, SE, SG, SI, SK, SN, SZ, TD, TG, TJ, TM, TR, TT, UA, UG, UZ, VN, ZW)
MATTHIJS, Gert [BE/BE]; BE (UsOnly)
Inventors:
MATTHIJS, Gert; BE
Agent:
FROUD, Clive ; Elkington and Fife Prospect House 8 Pembroke Road Sevenoaks Kent TN13 1XR, GB
Priority Data:
9708851.230.04.1997GB
9801719.727.01.1998GB
Title (EN) CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE I
(FR) SYNDROME DE TYPE 1 CONSECUTIF A UNE DEFICIENCE GLUCIDIQUE DE LA GLYCOPROTEINE
Abstract:
(EN) Inter alia, a purified and isolated DNA molecule characterised in that it comprises a nucleotide sequence encoding human phosphomannomutase 2 (PMM2) protein or a part thereof as shown in accompanying figure is disclosed.
(FR) L'invention concerne, entre autres, une molécule d'ADN purifiée et isolée, caractérisée en ce qu'elle comprend une séquence nucléotidique codant une protéine humaine phosphomannomutase 2 (PMM2) ou une partie de celle, comme on peut le voir sur les figures jointes.
Designated States: AL, AM, AT, AU, AZ, BA, BB, BG, BR, BY, CA, CH, CN, CU, CZ, DE, DK, EE, ES, FI, GB, GE, HU, IL, 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, TJ, TM, TR, TT, UA, UG, US, UZ, VN
African Regional Intellectual Property Organization (ARIPO) (GH, GM, KE, LS, MW, SD, SZ, 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, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)
Also published as:
MXPA/a/1999/010028EP0981632CA2289109AU1998077612