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Direct Assay of Enzymes in Heme Biosynthesis for the Detection of Porphyrias by Tandem Mass Spectrometry. Porphobilinogen Deaminase

✍ Scribed by Wang, Yuesong; Scott, C. Ronald; Gelb, Michael H.; Tureček, František


Book ID
127314485
Publisher
American Chemical Society
Year
2008
Tongue
English
Weight
132 KB
Volume
80
Category
Article
ISSN
0003-2700

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Direct cDNA sequencing has been performed on asymmetrically amplified transcripts from the human porphobilinogen deaminase gene. Lymphocytes from 30 patients with acute intermittent porphyria were the source of mRNA; of the seven separate point mutations detected, three were silent, whereas four res