Concepedia

Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms

A.M. Robreau-Fraolini, Hervé Puy, C. Aquaron, Catherine Bogard, M Traoré, Y Nordmann, R Aquaron, Jean‐Charles Deybach

Human Genetics · 2000 · 19 citations · 30 references

DOI

Concepts

References

30

THE OCCURRENCE AND DETERMINATION OF δ-AMINOLEVULINIC ACID AND PORPHOBILINOGEN IN URINE

D. Mauzerall, S. Granick · Journal of Biological Chemistry · 1956 · 1.6K citations · Full text

, , +3

Prediction of human mRNA donor and acceptor sites from the DNA sequence

Søren Brunak, Jacob Engelbrecht, Steen Knudsen · Journal of Molecular Biology · 1991 · 806 citations

, , +12

Intermittent Acute Porphyria — Demonstration of a Genetic Defect in Porphobilinogen Metabolism

Urs Meyer, Lars Strand, M. Doss et al. · New England Journal of Medicine · 1972 · 217 citations

, , +10

Early Administration of Heme Arginate for Acute Porphyric Attacks

Pertti Mustajoki · Archives of Internal Medicine · 1993 · 195 citations

, , +8

Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria

Hervé Puy, Jean‐Charles Deybach, J. Lamoril et al. · The American Journal of Human Genetics · 1997 · 150 citations · Full text

, , +13