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Article
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ-synthase mutations
Fasting and post-methionine load plasma total homocysteine concentrations were investigated in the parents of two homocystinuric patients. Three genetic mutations in the cystathionineβ-synthase gene were found. I...
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Article
Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11