DNA sequence encoding human cystathionine .beta.-synthase

Chemistry: molecular biology and microbiology – Spore forming or isolating process

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4351723, 4353201, 4352523, 43525233, 435232, 536 232, C12N 510, C12N 121, C12N 119, C12N 1560, C12N 1563

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055232256

ABSTRACT:
Disclosed is a purified and isolated DNA sequence encoding human cystathionine .beta.-synthase. Also disclosed is a purified and isolated human cystathionine .beta.-synthase encoded by this DNA sequence. Included is a composition of human cystathionine .beta.-synthase in a pharmacologically acceptable carrier for treating a human suffering from homocystinuria. Also provided are methods of screening human patients to detect mutations in the cystathionine .beta.-synthase gene.

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