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

doi:10.1006/mgme.1998.2771

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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 no...

Topics

Cystathionine beta-Synthase
Homocystinuria
Humans
Ireland
Mutation
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA

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