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Inherited deficiency of ferrochelatase results in erythropoietic protoporphyria (EPP). Genetic heterogeneity at the locus for human ferrochelatase was investigated. Analysis of genomic DNA of patients with EPP and of control subjects by restriction endonuclease techniques using ten different enzymes detected polymorphisms only at sites recognized by EcoRI, HincII, PstI and TaqI. None of these polymorphisms alone was specific for expression of the disease since each was observed in control subjects as well. Three of these polymorphisms (at EcoRI, HincII and PstI sites) were always associated, indicating linkage. These and other studies demonstrate that the ferrochelatase gene is markedly heterogeneous. It is not yet clear whether some of the mutations associated with these polymorphisms contribute to expression of EPP.
L T Ostasiewicz, and
J L Huang, and
X Wang, and
S Piomelli, and
M B Poh-Fitzpatrick
January 1994,
Biochimica et biophysica acta,
L T Ostasiewicz, and
J L Huang, and
X Wang, and
S Piomelli, and
M B Poh-Fitzpatrick
December 1991,
Genomics,
L T Ostasiewicz, and
J L Huang, and
X Wang, and
S Piomelli, and
M B Poh-Fitzpatrick
April 2007,
Molecular genetics and metabolism,
L T Ostasiewicz, and
J L Huang, and
X Wang, and
S Piomelli, and
M B Poh-Fitzpatrick
June 1993,
Human molecular genetics,
L T Ostasiewicz, and
J L Huang, and
X Wang, and
S Piomelli, and
M B Poh-Fitzpatrick
December 1991,
Biochemical and biophysical research communications,
L T Ostasiewicz, and
J L Huang, and
X Wang, and
S Piomelli, and
M B Poh-Fitzpatrick
September 2002,
The British journal of dermatology,
L T Ostasiewicz, and
J L Huang, and
X Wang, and
S Piomelli, and
M B Poh-Fitzpatrick
July 1975,
The Journal of laboratory and clinical medicine,
L T Ostasiewicz, and
J L Huang, and
X Wang, and
S Piomelli, and
M B Poh-Fitzpatrick
January 1977,
Ciba Foundation symposium,
L T Ostasiewicz, and
J L Huang, and
X Wang, and
S Piomelli, and
M B Poh-Fitzpatrick
November 2006,
Molecular genetics and metabolism,
L T Ostasiewicz, and
J L Huang, and
X Wang, and
S Piomelli, and
M B Poh-Fitzpatrick
April 1989,
The Journal of dermatology,
