Concepedia

High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients

Paula Gallagher, Pat Ward, Soon Guan Tan, E. R. Naughten, Jan P. Kraus, Grant C. Sellar, David J. McConnell, Ian Graham, Alexander S. Whitehead

Human Mutation · 1995 · 86 citations · 20 references

DOI

Concepts

References

20

Hyperhomocysteinemia: An Independent Risk Factor for Vascular Disease

Robert Clarke, Leslie Daly, Killian Robinson et al. · New England Journal of Medicine · 1991 · 2.2K citations · Full text

, , +15

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

S. Harvey Mudd, Flemming Skovby, Harvey L. Levy et al. · PubMed · 1985 · 1.3K citations

, , +10

Homocystine-induced arteriosclerosis. The role of endothelial cell injury and platelet response in its genesis.

Laurence A. Harker, Russell Ross, S. J. Slichter et al. · Journal of Clinical Investigation · 1976 · 939 citations · Full text

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The Metabolic Basis of Inherited Disease

John T. Garland · JAMA · 1990 · 658 citations

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Homocystinuria: An Enzymatic Defect

S. Harvey Mudd, James D. Finkelstein, F. Irreverre et al. · Science · 1964 · 523 citations

, , +10