Mutations in the gene encoding the .alpha. chain on platelet gly

Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives

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536 231, 536 235, 435 6, 435 696, 435 698, 435 701, 435 703, 4351721, 4351723, 4352402, 4352523, 43525233, 4353201, 436 87, 935 10, 935 27, 935 56, 935 57, 935 70, 935 73, 935 78, C12N 1511, C12N 1512, C12Q 168, G01N 3350

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053170970

ABSTRACT:
The subject invention provides purified polypeptides encoded by naturally-occurring wild-type platelet glycoprotein Ib alpha having a mutation which renders the polypeptide more reactive with von Willebrand factor. Preferably, the mutation is in the hinge region of GP Ib.alpha., such as the substitution of valine for glycine at residue 233. These mutations alter the three-dimensional structure of the mutant polypeptide from a beta bend conformation to an alpha helix formation, and also create an amphipathic region within the mutant polypeptide. DNA encoding the mutant polypeptides, as well as expression systems for the production of the mutant polypeptides, are also provided. Methods and compositions using the mutant polypeptides and DNA oligomers complementary to the mutant polypeptides are further provided.

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