Erythropoietic protoporphyria: Identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies

Journal of Investigative Medicine

Volumn 47, Issue 6, 1999, Pages 278-284

  Frank, Jorge ^a,b   Nelson, Jonathan ^a   Wang, Xiuhua ^a   Yang, Lin ^a   Ahmad, Wasim ^a   Lam, HaMut ^a   Jugert, Frank K ^b   Kalka, Katrin ^c   Poh Fitzpatrick, Maureen B ^a   Goerz, Günter ^c   Merk, Hans F ^b   Christiano, Angela M ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^c HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Erythropoietic protoporphyria; Ferrochelatase; Porphyria; Porphyrin heme biosynthesis

Indexed keywords

BIOLOGICAL MARKER; FERROCHELATASE; PRIMER DNA; PROTOPORPHYRIN;

ARTICLE; BLOOD; COMPARATIVE STUDY; DNA FINGERPRINTING; ENZYMOLOGY; FEMALE; GENETIC SCREENING; GENETICS; HEPATOERYTHROPOIETIC PORPHYRIA; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATERNITY; PEDIGREE;

BIOLOGICAL MARKERS; DNA FINGERPRINTING; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; FERROCHELATASE; GENETIC SCREENING; HUMANS; MALE; MUTATION; PATERNITY; PEDIGREE; PORPHYRIA, HEPATOERYTHROPOIETIC; PROTOPORPHYRINS;

EID: 0033160862     PISSN: 17088267     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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