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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Med Genet
Egile Nagusiak: Kalaydjieva, L, Dworniczak, B, Aulehla-Scholz, C, Devoto, M, Romeo, G, Sturhmann, M, Kucinskas, V, Yurgelyavicius, V, Horst, J
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 1991
Gaiak:
Research Article
Sarrera elektronikoa: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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