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Erythropoietic protoporphyria: a new mutation responsible for exon skipping in the human ferrochelatase gene. 1998

E Remenyik, and G W Lanyon, and I Horkay, and G Paragh, and N Wikonkál, and A Kósa, and M R Moore

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D005294 Ferrochelatase A mitochondrial enzyme found in a wide variety of cells and tissues. It is the final enzyme in the 8-enzyme biosynthetic pathway of HEME. Ferrochelatase catalyzes ferrous insertion into protoporphyrin IX to form protoheme or heme. Deficiency in this enzyme results in ERYTHROPOIETIC PROTOPORPHYRIA. Heme Synthetase,Porphyrin-Metal Chelatase,Protoheme Ferro-Lyase,Zinc Chelatase,Chelatase, Porphyrin-Metal,Chelatase, Zinc,Ferro-Lyase, Protoheme,Porphyrin Metal Chelatase,Protoheme Ferro Lyase,Synthetase, Heme
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D017121 Porphyria, Hepatoerythropoietic An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating. Hepatoerythropoietic Porphyria,Porphyria, Erythrohepatic,Erythrohepatic Porphyria,Erythrohepatic Porphyrias,Hepatoerythropoietic Porphyrias,Porphyrias, Erythrohepatic,Porphyrias, Hepatoerythropoietic

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