- Tytuł:
- In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
- Autorzy:
-
Żekanowski, Cezary
Perez, Belen
Desviat, Lourdes
Wiszniewski, Wojciech
Ugarte, Magdalena - Powiązania:
- https://bibliotekanauki.pl/articles/1044360.pdf
- Data publikacji:
- 2000
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
phenylalanine hydroxylase
expression analysis
mutation
hyperphenylalaninemia - Opis:
- Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
- Źródło:
-
Acta Biochimica Polonica; 2000, 47, 2; 365-369
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł