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Article

Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.

Molecular genetics and metabolism - 1 Dec 1998

Gallagher P M, Naughten E, Hanson N Q, Schwichtenberg K, Bignell M, Yuan M, Ward P, Yap S, Whitehead A S, Tsai M Y

Abstract excerpt

We used single-strand conformational polymorphism and nucleotide sequencing to characterize defective cystathionine beta-synthase gene alleles in 18 independent Irish patients with homocystinuria. Six mutations were detected, three of which have been reported previously and three of which were novel. The novel mutations include T302C (L101P), C684G (N228K), and G1063C (A354P). Of the three, only T302C (L101P) was...

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Identifiers

PMID: 9889017
DOI: 10.1006/mgme.1998.2771

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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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