Rapid molecular diagnosis of erythropoietic protoporphyria among Swiss patients

Clinical Chemistry and Laboratory Medicine

Volumn 36, Issue 10, 1998, Pages 763-765

  Rüfenacht, Urszula B ^a   Schneider Yin, Xiaoye ^a   Schäfer, Beat W ^b   Taketani, Shigeru ^c   Deybach, Jean Charles P ^d   Minder, Elisabeth I ^a  

^a TRIEMLI HOSPITAL   (Switzerland)

^b Universitats Kinderklinik   (Switzerland)

^c KANSAI MEDICAL UNIVERSITY   (Japan)

^d HÔPITAL LOUIS MOURIER   (France)

Author keywords

DGGE analysis; Erythropoietic protoporphyria; Ferrochelatase; Mutation

Indexed keywords

FERROCHELATASE; HEME; PROTOPORPHYRIN;

ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; ERYTHROCYTE; ERYTHROPOIETIC PROTOPORPHYRIA; FECES; GENE MUTATION; HEME SYNTHESIS; HETEROZYGOTE; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING TEST; SWITZERLAND;

EID: 0345404481     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.1998.135     Document Type: Article

References (7)

1. Nakahashi Y, Taketani S, Okuda M, Inoue K, Tokunaga R. Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase. Biochem Biophys Res Commun 1990; 173:748-55.
2. Taketani S, Inazama J, Nakahashi Y, Abe T, Tokunaga R. Structure of the human ferrochelatase gene exon/intron gene organization and location of the gene to chromosome 18. Eur J Biochem 1992; 205:217-22.
3. Cox T. Erythropoietic protoporphyria. J Inher Metab Dis 1997; 20:258-69.
4. Fischer S, Lerman L. DNA fragments differing by a single base-pair substitution in denaturing gradient gels: correspondence with melting theory. Proc Natl Acad Sci USA 1983; 80:1579-83
5. Rüfenacht U, Gouya L, Schneider-Yin X, Puy H, Schäfer BW, Aquaron R, et al. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. Am J Hum Genet 1998; 62:1341-52.
6. Schneider-Yin X, Schäfer BW, Möhr P, Burg G, Minder EI. Molecular defect in erythropoietic protoporphyria with terminal liver failure. Hum Genet 1994; 93:711-3.
7. Schneider-Yin X, Schäfer BW, Tonz O, Minder EI. Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing. Hum Genet 1995; 95:391-6.