A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family.

@article{Hift2004ASS,
  title={A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family.},
  author={Richard J. Hift and Dirk Meissner and Peter Mei\ssner},
  journal={The British journal of dermatology},
  year={2004},
  volume={151 2},
  pages={465-71}
}
BACKGROUND Variegate porphyria (VP) is an autosomal dominant disorder associated with deficient haem synthesis. Recent reports indicate that the clinical penetrance of VP may have been overestimated in studies which predated the availability of DNA-based testing for VP. OBJECTIVES To undertake a study specifically designed to assess the clinical and biochemical penetrance of VP in a kindred characterized by gene status. METHODS We studied a large family carrying the South African founder… CONTINUE READING

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