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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...
Gorde:
| Egile Nagusiak: | , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
1987
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| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC306010/ https://ncbi.nlm.nih.gov/pubmed/3615198 |
| Etiketak: |
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