Erythropoietic protoporphyria: A new mutation responsible for exon skipping in the human ferrochelatase gene [3]

Journal of Investigative Dermatology

Volumn 111, Issue 3, 1998, Pages 540-541

  Remenyik, E ^a   Lanyon, G W ^a   Horkay, I ^a   Paragh, G ^a   Wikonkal, N ^a   Kosa, A ^a   Moore, M R ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FERROCHELATASE; PROTOPORPHYRIN;

ADULT; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ERYTHROPOIETIC PROTOPORPHYRIA; EXON; FAMILY; GENE MUTATION; HUMAN; HUMAN CELL; LETTER; MALE; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0031662855     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00300.x     Document Type: Letter

References (5)

1. Y. Nakahashi H. Miyazaki Y. Kadota The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria Proc Natl Acad Sci USA 89 1992 281 285
2. Y. Nakahashi H. Miyazaki Y. Kadota Molecular defect in human erythropoietic protoporphyria with fatal liver failure Hum Genet 91 1993 303 306
3. A.V.W. Nunn P. Norris J.L.M. Hawk T.M. Cox Zinc chelatase in human lymphocytes: detection of the enzymatic defect in erythropoietic protoporphyria Anal Biochem 174 1988 146 150
4. D.J. Todd Erythropoietic protoporphyria Br J Dermatol 131 1994 661 751
5. X. Wang M. Poh-Fitzpatrik S. Taketani T. Chen S. Piomelli Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria Biochem Biophys Acta 1225 1994 187 189