PAH and QDPR deficiency associated mutations in the Novosibirsk region of the Russian Federation: Correlation of mutation type with disease manifestation and severity

Background: Efficient treatment of inherited hyperphenylalaninemia requires exact identification of mutations defining the trait. Such knowledge is important both for effective individual therapy and understanding of the genetic history and evolution of regional populations. Methods: DNA sequencing...

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Autori principali:	Baturina Olga A., Tupikin Alexey E., Lukjanova Tatyana V., Sosnitskaya Svetlana V., Morozov Igor V.
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Society of Medical Biochemists of Serbia, Belgrade 2014-01-01
Serie:	Journal of Medical Biochemistry
Soggetti:	hyperphenylalaninemia phenylketonuria phenylalanine hydroxylase genotype phenotype
Accesso online:	https://scindeks-clanci.ceon.rs/data/pdf/1452-8258/2014/1452-82581404333B.pdf
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