Characterization of Mutations in the Cystathionine β-Synthase Gene in Irish Patients with Homocystinuria

This publication has 18 references indexed in Scilit:

• Newborn screening for homocystinuria: Irish and world experience
  European Journal of Pediatrics, 1998
• Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria
  Atherosclerosis, 1996
• Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients
  Human Genetics, 1995
• 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
  Journal of Inherited Metabolic Disease, 1995
• High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients
  Human Mutation, 1995
• Characterization of a cystathionine β-synthase allele with three mutations in cis in a patient with B₆ nonresponsive homocystinuria
  Human Molecular Genetics, 1994
• Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine β-synthase using an improved bacterial expression system
  Human Molecular Genetics, 1994
• 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
• Screening for mutations by expressing patient cDNA segments inE. coli: Homocystinuria due to cystathionine β-synthase deficiency
  Human Mutation, 1992