Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions

Keyphrases

• Knock-in Mouse Model 100%
• Light-induced 100%
• Cutaneous Lesions 100%
• Erythropoietic Protoporphyria 100%
• Uroporphyrinogen III Synthase 100%
• Erythroid 40%
• Disease Pathogenesis 40%
• Erythrocytes 40%
• Porphyrin 40%
• Cutaneous Involvement 40%
• Erythrodontia 40%
• Genotype 20%
• Null Mice 20%
• Murine Model 20%
• Clinical Manifestations 20%
• Autosomal Recessive 20%
• Fetal Development 20%
• Missense mutation 20%
• Bone Tissue 20%
• Diseases Therapeutic 20%
• Hemolytic Anemia 20%
• Heme 20%
• Extramedullary Hematopoiesis 20%
• Early Embryo 20%
• Hemoprotein 20%
• Inborn Errors 20%
• Embryonic Lethal 20%
• Severe Anemia 20%
• Study of Disease 20%
• Porphyria 20%
• Phototoxic 20%
• Heme Biosynthesis Pathway 20%
• Concatemer 20%
• Reticulocytosis 20%
• Fetal Survival 20%
• Recombinant Allele 20%

Medicine and Dentistry

• Skin Defect 100%
• Erythropoietic Porphyria 100%
• Uroporphyrinogen III Synthase 100%
• Disease 40%
• Erythrocyte 40%
• Heme 40%
• Porphyrin 40%
• Anemia 20%
• In Vitro 20%
• Autosomal Recessive Inheritance 20%
• Allele 20%
• Missense Mutation 20%
• Bone Tissue 20%
• Fetus Development 20%
• Extramedullary Hematopoiesis 20%
• Hemolytic Anemia 20%
• Recombinant 20%
• Biosynthesis 20%
• Porphyria 20%
• Reticulocytosis 20%

Biochemistry, Genetics and Molecular Biology

• Porphyria 100%
• Uroporphyrinogen III Synthase 100%
• Wild Type 33%
• Porphyrin 33%
• Enzyme 16%
• Allele 16%
• Recombinant 16%
• Anabolism 16%
• Knockout Mouse 16%
• Fetus Development 16%
• Missense Mutation 16%
• Autosomal Recessive Inheritance 16%
• Concatemer 16%
• Hemoprotein 16%
• Extramedullary Hematopoiesis 16%
• Reticulocytosis 16%