Associated Papers
Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.
Sultan R et al.
Molecular Genetics and Metabolism Reports, 2025
Homocystinuria and ocular complications - A review.
Rahman M et al.
Indian Journal of Ophthalmology, 2022
Seven novel genetic variants in a North Indian cohort with classical homocystinuria.
Kaur R et al.
Scientific Reports, 2020
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S et al.
Genome Medicine, 2020
32000841 (PubMed )
Supplement: 13073_2020_711_MOESM1_ESM.xlsx › Table_S1
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
New insights into the pathogenicity of non-synonymous variants through multi-level analysis.
Sun H et al.
Scientific Reports, 2019
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Correction of disease-causing CBS mutations in yeast.
Shan X et al.
Nature Genetics, 1998
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
European Journal of Pediatrics, 1998
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Kruger WD et al.
Human Molecular Genetics, 1995
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