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Article

Surrogate genetics and metabolic profiling for characterization of human disease alleles.

Genetics - 1 Apr 2012

Mayfield Jacob A, Davies Meara W, Dimster-Denk Dago, Pleskac Nick, McCarthy Sean, Boydston Elizabeth A, Fink Logan, Lin Xin Xin, Narain Ankur S, Meighan Michael, Rine Jasper

Abstract excerpt

Cystathionine-β-synthase (CBS) deficiency is a human genetic disease causing homocystinuria, thrombosis, mental retardation, and a suite of other devastating manifestations. Early detection coupled with dietary modification greatly reduces pathology, but the response to treatment differs with the allele of CBS. A better understanding of the relationship between allelic variants and protein function will improve...

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Source

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Identifiers

PMID: 22267502
DOI: 10.1534/genetics.111.137471
PMCID: PMC3316645

Genes

CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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