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Article

How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.

Human genetics - 1 Jul 2022

Kruger Warren D

Abstract excerpt

Inborn errors of metabolism (IEM) comprise a large class of recessive genetic diseases involving disorders of cellular metabolism that tend to be caused by missense mutations in which a single incorrect amino acid is substituted in the polypeptide chain. Cystathionine beta-synthase (CBS) deficiency is an example of an IEM that causes large elevations of blood total homocysteine levels, resulting in phenotypes in...

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Identifiers

PMID: 34636997
DOI: 10.1007/s00439-021-02386-w
PMCID: PMC9003067

Genes

CBS

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How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.PMID 34636997Read ↗

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