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
✦ LIBER ✦
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria
✍ Scribed by Lindberg, Raija L.P.; Porcher, Catherine; Grandchamp, Bernard; Ledermann, Birgit; Bürki, Kurt; Brandner, Sebastian; Aguzzi, Adriano; Meyer, Urs A.
- Book ID
- 109915202
- Publisher
- Nature Publishing Group
- Year
- 1996
- Tongue
- English
- Weight
- 659 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1061-4036
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A single base insertion of C in exon 15 of the porphobilinogen deaminase (PBG-D) gene was observed in a patient with acute intermittent porphyria (AIP) by polymerase chain reaction (PCR)-direct sequencing analysis. The insertion locates between positions -22 and -21 from the translation termination