Concepedia

Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

Martina Witsch‐Baumgartner, Barbara U. Fitzky, M. Ogorelkova, H.G. Kraft, Fabian F. Moebius, Hartmut Glossmann, Udo Seedorf, Gabriele Gillessen‐Kaesbach, Georg F. Hoffmann, Peter T. Clayton,

The American Journal of Human Genetics · 2000 · 189 citations · 23 references

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References

23

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

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

Val C. Sheffield, David R. Cox, Leonard S. Lerman et al. · Proceedings of the National Academy of Sciences · 1989 · 1.3K citations · Full text

, , +14

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

R Myers, Tom Maniatis, Leonard S. Lerman · Methods in enzymology on CD-ROM/Methods in enzymology · 1987 · 936 citations

, , +10

Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE.

Bruce Budowle, Ranajit Chakraborty, A M Giusti et al. · PubMed · 1991 · 920 citations

, , +4

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

G S Tint, Mira Irons, Ellen Roy Elias et al. · New England Journal of Medicine · 1994 · 814 citations · Full text

, , +15