Biochemical compared to molecular diagnosis in acute intermittent porphyria
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0155-9
Reference20 articles.
1. 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.
2. Bøyum A (1984) Separation of lymphocytes, granulocytes and monocytes from human blood using iodinated density gradient media. Methods Enzymol 108: 88–102.
3. Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein–dye binding. Anal Biochem 72: 248–254.
4. von Brasch L, Zang C, Haverkamp T, Schlechte H, Heckers H, Petrides PE (2004) Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations. Blood Cells Mol Dis 32: 309–314.
5. Doss MO (1974) Porphyrins and porphyrin precursors. In: Curtius HC, Roth M, eds. Clinical Biochemistry – Principles and Methods, vol. 2. New York: W. de Gruyter, 1323–1371.
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3. Porphyria;Encyclopedia of the Neurological Sciences;2014
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