Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.

doi:10.1007/pl00014304

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Article

Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.

European journal of pediatrics - 1 Apr 1998

Kraus J P

Abstract excerpt

Homocysteine is an independent risk factor for arteriosclerotic disease. Deficiency of cystathionine beta-synthase (CBS) is the major cause of inherited homocysteinemia. The CBS gene is 25-30 kbp long and encodes a subunit of 63 kDa. The active form of the enzyme is a homotetramer that contains o...

Topics

Alleles
Animals
Cystathionine beta-Synthase
Homocystinuria
Humans
Molecular Biology
Mutation
Pyridoxal Phosphate

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