The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study-Reference-Cited by-同舟云学术

The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study

Published:2000-01 Issue:7 Volume:60 Page:643-648
ISSN:0036-5513
Container-title:Scandinavian Journal of Clinical and Laboratory Investigation
language:en
Short-container-title:Scandinavian Journal of Clinical and Laboratory Investigation

Author:

C. Andersson, Y. Floderus, A. Wikbe

Publisher

Informa UK Limited

Subject

Clinical Biochemistry,General Medicine

Link

http://www.tandfonline.com/doi/pdf/10.1080/003655100300054891

Reference16 articles.

1. Tissue-specific splicing mutation in acute intermittent porphyria.

2. Mustajoki S. Molecular genetics of acute inter-mittent porphyria in Finland. Academic disserta-tion. Department of Medicine, University of Helsinki, Finland; 1999.

3. The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria

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