Acute intermittent porphyria caused by a C?T mutation that produces a stop codon in the porphobilinogen deaminase gene
- 1 October 1990
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 85 (6) , 631-634
- https://doi.org/10.1007/bf00193588
Abstract
A mutation of the porphobilinogen (PBG) deaminase gene that produces the cross-reacting immunological material (CRIM)-negative type of acute intermittent porphyria (AIP) has been identified in one of 43 unrelated patients with this form of the disorder. The mutation is a C→T transition that abolishes a PstI recognition site in exon 9 of the gene and converts a codon for glutamine to a stop codon.This publication has 12 references indexed in Scilit:
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