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Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

To investigate the molecular basis of phenylketonuria in Italy we applied the chemical cleavage method (CCM) on amplified DNA encompassing exons 7 and 8 of the phenylalanine hydroxylase gene. These exons are in a region likely to be involved in enzyme function. Using this approach, we could simultan...

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Autors principals: Dianzani, I, Forrest, S M, Camaschella, C, Saglio, G, Ponzone, A, Cotton, R G
Format: Artigo
Idioma:Inglês
Publicat: 1991
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682973/
https://ncbi.nlm.nih.gov/pubmed/1671810
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