Carbohydrate-deficient glycoprotein syndrome type i

Details Carbohydrate-deficient glycoprotein syndrome type i Carbohydrate-deficient glycoprotein syndrome type i

C - Chemistry, Metallurgy

12

N

C12N 15/61 (2006.01) A01K 67/027 (2006.01) A61K 38/52 (2006.01) A61K 39/395 (2006.01) C12N 9/90 (2006.01) C12Q 1/68 (2006.01) G01N 33/68 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2289109

<u>Inter</u> <u>alia</u>, 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.

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.

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