Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0344-6
Reference37 articles.
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2. Anderson KE (1989) LHRH analogues for hormonal manipulation in acute intermittent porphyria. Semin Hematol 26: 10–15.
3. Anderson KE, Bloomer JR, Bonkovsky HL, et al (2005) Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 142: 439–450.
4. Andersson C, Floderus Y, Wikberg A, Lithner F (2000) The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. Scand J Clin Lab Invest 60: 643–648.
5. Badenas C, Torra R, Lucero L, Milá M, Estivill X, Darnell A (1999) Mutational analysis within the 3′ region of the PKD1 gene. Kidney Int 55: 1225–1233.
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