Felix de Rooij

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

High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

Xuefan Gu, Felix de Rooij, J. S. Lee et al. · Human Genetics · 1993 · 59 citations

Genetics, Pathogenesis, Point Mutation +5

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

Sarah Ducamp, Xiaoye Schneider‐Yin, Felix de Rooij et al. · Human Molecular Genetics · 2012 · 53 citations

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis

Xuefan Gu, Felix de Rooij, Gardi Voortman et al. · Human Genetics · 1994 · 46 citations

Biology, Eleven Mutations, Molecular Diagnostic Techniques +8

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

Marie Hélène Delfau, C. Picat, Felix de Rooij et al. · PubMed · 1991 · 46 citations