A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
We have determined the mutation in a patient with acute intermittent porphyria. The mRNA coding for porphobilinogen deaminase was reverse transcribed then the cDNA was enzymatically amplified in vitro. Upon sequencing of a polymerase chain reaction product of abnormal size we found that this fragmen...
Sparad:
| I publikationen: | Nucleic Acids Res |
|---|---|
| Huvudupphov: | , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
Oxford University Press
1989
|
| Länkar: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC318356/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2789372/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/17.16.6637 |
| Taggar: |
Inga taggar, Lägg till första taggen!
|