Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation
- 1 May 1994
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 93 (5) , 533-537
- https://doi.org/10.1007/bf00202818
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skippingHuman Genetics, 1993
- High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyriaHuman Genetics, 1993
- High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.1992
- Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNAHuman Genetics, 1992
- Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase geneHuman Genetics, 1992
- Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.Proceedings of the National Academy of Sciences, 1991
- Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.1991
- Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.Journal of Clinical Investigation, 1990
- Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminaseEuropean Journal of Clinical Investigation, 1989
- Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminaseNucleic Acids Research, 1986