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...

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Main Authors: Marvit, J, DiLella, A G, Brayton, K, Ledley, F D, Robson, K J, Woo, S L
Formato: Artigo
Idioma:Inglês
Publicado: 1987
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC306010/
https://ncbi.nlm.nih.gov/pubmed/3615198
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