Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene

Human Mutation

Volumn 10, Issue 3, 1997, Pages 196-200

  Schreiber, William E ^a,b   Zhang, Xian ^b   Senz, Janine ^b   Jamani, Azim ^a  

^a VANCOUVER GENERAL HOSPITAL   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Coproporphyrinogen oxidase; Frameshift mutation; Hereditary coproporphyria; Heteroduplex analysis

Indexed keywords

AMINO ACID; COPROPORPHYRIN; COPROPORPHYRINOGEN OXIDASE; DNA; GLUTAMIC ACID; HEME; HETERODUPLEX; LYSINE; PORPHYRIN; PROLINE; SERINE;

AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; CASE REPORT; CODON; CONTROLLED STUDY; COPROPORPHYRIA; DNA SEQUENCE; ENZYME DEFICIENCY; EXON; FRAMESHIFT MUTATION; GENE; HEME SYNTHESIS; HUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; PORPHYRIA; PORPHYRIN METABOLISM; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; CLONING, MOLECULAR; COPROPORPHYRINOGEN OXIDASE; EXONS; FRAMESHIFT MUTATION; GENETIC SCREENING; HUMANS; MICE; MOLECULAR SEQUENCE DATA; NUCLEIC ACID HETERODUPLEXES; POINT MUTATION; PORPHYRIAS, HEPATIC; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0030820429     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:3<196::AID-HUMU3>3.0.CO;2-H     Document Type: Article

References (5)

1. Astrin KH, Desnick RJ (1994) Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene. Hum Mutat 4:243-252.
2. Delfau-Larue M-H, Martasek P, Grandchamp B (1994) Coproporphyrinogen oxidase: Gene organization and description of a mutation leading to exon 6 skipping. Hum Mol Genet 3:1325-1330.
3. Fujita H, Kondo M, Taketani S, Nomura N, Furuyama K, Akagi R, Nagai T, Terajima M, Galbraith RA, Sassa S (1994) Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria. Hum Mol Genet 3:1807-1810.
4. Kappas A, Sassa S, Galbraith RA, Nordmann Y (1995) The Porphyrias. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York: McGraw-Hill, pp 2103-2159.
5. Kohno H, Furukawa T, Yoshinaga T, Tokunaga R, Taketani S (1993) Coproporphyrinogen oxidase: Purification, molecular cloning, and induction of mRNA during erythroid differentiation. J Biol Chem 268:21359-21363.