Concepedia

A Systematic Analysis of theMutations of the UroporphyrinogenIII Synthase Gene in CongenitalErythropoietic Porphyria

Hubert de Verneuil, Cécile Ged, Antonio Fontanellas, Morad Bensidhoum, Rafael Enrı́quez de Salamanca, Antonio Moruno Tirado

European Journal of Human Genetics · 1996 · 55 citations · 22 references

DOI

Concepts

References

22

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Analytical Biochemistry · 1987 · 63.3K citations

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

, , +16

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

, , +16

[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

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support

Thomas Hultman, Stefan Ståhl, Erik Homes et al. · Nucleic Acids Research · 1989 · 732 citations · Full text

, , +9