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Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

Human mutation - 1 Feb 2006

Urreizti Roser, Asteggiano Carla, Cozar Mónica, Frank Nina, Vilaseca María Antonia, Grinberg Daniel, Balcells Susana

Abstract excerpt

In this study, 14 CBS alleles from homocystinuric patients were expressed heterologously in E. coli and their enzyme activities were assayed in vitro. Additionally, mutant CBS proteins were visualized by Western blot from denaturing and non-denaturing polyacrylamide gels. The 14 mutations characterized were: p.R125W (c.373C>T), p.G148R (c.442G>A), p.M173V (c.517A>G), p.T191M (c.572C>T), p.A226T (c.676G>A),...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystathionine beta-Synthase

Share to Electrophoresis, Polyacrylamide Gel

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Share to Protein Structure, Quaternary

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 16429402
DOI: 10.1002/humu.9395

Genes

CBS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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