Showing results (71-80 of 87) with videos related to

Sort By:
Pageof 9
Genomics|June 1, 1993
Ferrochelatase structural mutant (Fechm1Pas) in the house mouseS Boulechfar, J Lamoril, X Montagutelli, et al.
American Journal of Human Genetics|April 20, 2001
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyriaJ Lamoril, H Puy, S D Whatley, et al.
American Journal of Human Genetics|September 16, 1999
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutationS D Whatley, H Puy, R R Morgan, et al.
Molecular Medicine (Cambridge, Mass.)|October 10, 2001
Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patientsM M Schuurmans, X Schneider-Yin, U B Rüfenacht, et al.
The Journal of Investigative Dermatology|September 18, 1998
Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyriaL Gouya, X Schneider-Yin, U Rüfenacht, et al.
The Journal of Clinical Investigation|November 1, 1990
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyriaM H Delfau, C Picat, F W de Rooij, et al.
American Journal of Human Genetics|June 19, 1998
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyriaU B Rüfenacht, L Gouya, X Schneider-Yin, et al.
Hepatology (Baltimore, Md.)|March 21, 1998
Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tardaJ Lamoril, C Andant, C Bogard, et al.
The British Journal of Dermatology|April 1, 2016
Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in FranceS de Bataille, H Dutartre, H Puy, et al.
The Journal of Clinical Investigation|November 1, 1991
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver diseaseS Tutois, X Montagutelli, V Da Silva, et al.
Pageof 9