Concepedia

Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia

Philippa J. Talmud, Anne Tybjærg-Hansen, Deepak Bhatnagar, Anthony Mbewu, J. Philip Miller, Paul N. Durrington, Steve E. Humphries

Atherosclerosis · 1991 · 102 citations · 13 references

DOI

Concepts

References

13

Estimation of the Concentration of Low-Density Lipoprotein Cholesterol in Plasma, Without Use of the Preparative Ultracentrifuge

William T. Friedewald, Robert I. Levy, Donald S. Fredrickson · Clinical Chemistry · 1972 · 32.5K citations

, , +14

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

Randall K. Saiki, Stephen J. Scharf, Fred Faloona et al. · Science · 1985 · 9K citations

, , +17

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

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Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

L. F. SORIA, E H Ludwig, Howard R. G. Clarke et al. · Proceedings of the National Academy of Sciences · 1989 · 636 citations · Full text

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RISKS OF ISCHÆMIC HEART-DISEASE IN FAMILIAL HYPERLIPOPROTEINÆMIC STATES

Joan Slack · The Lancet · 1969 · 629 citations

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