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Article

Chemical chaperone rescue of mutant human cystathionine beta-synthase.

Molecular genetics and metabolism - 1 Aug 2007

Singh Laishram R, Chen Xulin, Kozich Viktor, Kruger Warren D

Abstract excerpt

Missense mutations in the cystathionine beta-synthase (CBS) gene, such as I278T, are responsible for CBS deficiency, the most common inherited disorder in sulfur metabolism. Expression of human mutant CBS proteins in Saccharomyces cerevisiae reveals that most disease causing mutations severely in...

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Share to Amino Acid Substitution
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Share to Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

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Identifiers

PMID: 17540596
DOI: 10.1016/j.ymgme.2007.04.011
PMCID: PMC2040066

Genes

CBS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17540596-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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