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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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Bibliografiske detaljer
Main Authors: Kalaydjieva, L, Dworniczak, B, Aulehla-Scholz, C, Devoto, M, Romeo, G, Sturhmann, M, Kucinskas, V, Yurgelyavicius, V, Horst, J
Format: Artigo
Sprog:Inglês
Udgivet: 1991
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017055/
https://ncbi.nlm.nih.gov/pubmed/1682495
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