Concepedia

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

J. Lamoril, Samia Boulechfar, Hubert de Verneuil, Bernard Grandchamp, Y Nordmann, Jean‐Charles Deybach

Biochemical and Biophysical Research Communications · 1991 · 119 citations · 7 references

DOI

Concepts

References

7

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

Randall K. Saiki, David H. Gelfand, Susanne Stoffel et al. · Science · 1988 · 17.2K citations

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Genetic aspects of erythropoietic protoporphyria

L.N. Went, E.C. Klasen · Annals of Human Genetics · 1984 · 135 citations

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The inherited enzymatic defect in porphyria variegata

Jean‐Charles Deybach, Hubert de Verneuil, Y Nordmann · Human Genetics · 1981 · 125 citations

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A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

Bernard Grandchamp, C. Picat, Felix de Rooij et al. · Nucleic Acids Research · 1989 · 118 citations · Full text

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Genetic Heterogeneity in Erythropoietic Protoporphyria: A Study of the Enzymatic Defect in Nine Affected Families

P.G. NORRIS, Alistair V.W. Nunn, J.L.M. Hawk et al. · Journal of Investigative Dermatology · 1990 · 66 citations

, , +14