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

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...

Full description

Bibliographic Details
Main Authors: Baturina Olga A., Tupikin Alexey E., Lukjanova Tatyana V., Sosnitskaya Svetlana V., Morozov Igor V.
Format: Article
Language:English
Published: Society of Medical Biochemists of Serbia, Belgrade 2014-01-01
Series:Journal of Medical Biochemistry
Subjects:
hyperphenylalaninemia
phenylketonuria
phenylalanine hydroxylase
genotype
phenotype
Online Access:https://scindeks-clanci.ceon.rs/data/pdf/1452-8258/2014/1452-82581404333B.pdf

Internet

https://scindeks-clanci.ceon.rs/data/pdf/1452-8258/2014/1452-82581404333B.pdf

Similar Items