Direct cDNA sequencing was performed on asymmetrically amplified transcripts from the porphobilinogen deaminase (PBG-D) gene of thirteen unrelated individuals with acute intermittent porphyria. Four different mutations and a polymorphic site were detected in exon 12 of the gene, four being the resul
A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria
โ Scribed by Jun-ichi Sakabe; Shinji Susa; Makoto Daimon; Min-yu Lan; Takeo Kato
- Book ID
- 116304600
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 120 KB
- Volume
- 41
- Category
- Article
- ISSN
- 1079-9796
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๐ SIMILAR VOLUMES
Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the eDNA fra
Single-strand conformation polymorphism analysis was used to screen all 15 exons of the porphobilinogen deaminase gene from 13 patients with acute intermittent porphyria. Unique banding patterns in two amplified gene fragments, one containing exon 9 and another containing exon 10, were further inves