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

This publication has 7 references indexed in Scilit:

• Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria
  Human Molecular Genetics, 1993
• Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells
  Human Molecular Genetics, 1993
• Molecular defect in a patient with pyridoxine-responsive homocystinuria
  Human Molecular Genetics, 1993
• Screening for mutations by expressing patient cDNA segments inE. coli: Homocystinuria due to cystathionine β-synthase deficiency
  Human Mutation, 1992
• DNA sequencing with chain-terminating inhibitors
  Proceedings of the National Academy of Sciences, 1977