A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

European Journal of Human Genetics

Volumn 4, Issue 5, 1996, Pages 274-282

  Fontanellas, A ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Genetic diagnosis; Molecular pathology; Porphyria

Indexed keywords

ARGININE; CYSTEINE; UROPORPHYRINOGEN III SYNTHASE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; CONTROLLED STUDY; ENZYME DEFICIENCY; ESCHERICHIA COLI; EXON; EXPRESSION VECTOR; FEMALE; GENE MUTATION; HEME SYNTHESIS; HUMAN; HUMAN CELL; INFANT; INTRON; LYMPHOBLASTOID CELL LINE; MALE; MISSENSE MUTATION; NEWBORN; NONHUMAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ESCHERICHIA COLI;

EID: 0029960531     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472214     Document Type: Article

References (2)

1. Kappas AS, Sassa S, Galbraith RA, Nordmann Y: The porphyrias; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The metabolic basis of inherited disease. New York, McGraw-Hill, 1995, pp 2103-2159.
2. Romeo G, Levin EY: Uroporphyrinogen III cosynthase in human congenital erythropoietic porphyria. Proc Natl Acad Sci USA 1969;63:856-863.