Ładuje się......
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.
Classical Phenylketonuria (PKU) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). We isolated several mutant PAH cDNA clones from a PKU carrier individual and showed that they contained an internal 116 base pair deletion, correspondin...
Zapisane w:
| Główni autorzy: | , , , , , |
|---|---|
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
1987
|
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC306010/ https://ncbi.nlm.nih.gov/pubmed/3615198 |
| Etykiety: |
Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!
|