Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

Direct sequencing of the phenylalanine hydroxylase (PAH) gene indicated the existence of silent mutations in codons 232, 245, and 385, linked to specific RFLP haplotypes in several Caucasian populations, namely Germans, Bulgarians, Italians, Turks, and Lithuanians. All three mutations create a new r...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Kalaydjieva, L, Dworniczak, B, Aulehla-Scholz, C, Devoto, M, Romeo, G, Sturhmann, M, Kucinskas, V, Yurgelyavicius, V, Horst, J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017055/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1682495/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.10.686
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