[Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria]

Autor:	B V, Skriabin, L A, Koval'chuk, S E, Khal'chitskiĭ, A A, Gol'tsov, O K, Kaboev, O V, Plutalov, Iu A, Berlin, E I, Shvarts
Rok vydání:	1989
Předmět:	Base Sequence Phenylketonurias Molecular Sequence Data Mutation Humans Nucleic Acid Hybridization Phenylalanine Hydroxylase DNA Exons Alleles
Zdroj:	Bioorganicheskaia khimiia. 15(12)
ISSN:	0132-3423
Popis:	Upon amplification in vitro of the 12th exon area of the human phenylalanine hydroxylase gene followed by allele-specific hybridisation of the amplification product with synthetic probes and its sequencing by the Maxam-Gilbert method, a C----T transition causing phenylketonuria has been identified in Latvian patients.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::32048640f470957cc6b82e1385725d38 https://pubmed.ncbi.nlm.nih.gov/2634967 Zobrazit plný text záznamu