Article
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Australian and New Zealand journal of medicine - 1 Apr 1996
Dawson P A, Cochran D A, Emmerson B T, Kraus J P, Dudman N P, Gordon R B
Abstract excerpt
BACKGROUND: A deficiency of cystathionine beta-synthase (CBS) activity is the most frequent cause of homocystinuria, an autosomal recessive disease with multiple clinical manifestations. Mutations in the CBS gene have been reported in several patients with homocystinuria. AIMS: To establish the molecular basis of CBS deficiency in a female patient with pyridoxine non-responsive homocystinuria, and to apply the...
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