Associated Papers
Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients.
Khalil A et al.
Nucleosides, Nucleotides & Nucleic Acids, 2024
Seven novel genetic variants in a North Indian cohort with classical homocystinuria.
Kaur R et al.
Scientific Reports, 2020
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Katsushima F et al.
Molecular Genetics and Metabolism, 2006
Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
De Lucca M et al.
Molecular Genetics and Metabolism, 2004
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
Urreizti R et al.
Human Mutation, 2003
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
Sokolová J et al.
Human Mutation, 2001
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
Janosík M et al.
American Journal of Human Genetics, 2001
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
European Journal of Pediatrics, 1998
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