In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene. | Zendy

C Zekanowsk | Zendy; Belén Pérez | Zendy; Lourdes R. Desviat | Zendy; Wojciech Wiszniewski | Zendy; Magdalena Ugarte | Zendy

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In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.

Author(s) -

C Zekanowsk,

Belén Pérez,

Lourdes R. Desviat,

Wojciech Wiszniewski,

Magdalena Ugarte

Publication year - 2000

Publication title -

acta biochimica polonica

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.452

H-Index - 78

eISSN - 1734-154X

pISSN - 0001-527X

DOI - 10.18388/abp.2000_4016

Subject(s) - phenylalanine hydroxylase , phenylalanine , gene , genotype , in vitro , mutation , genetics , enzyme , gene mutation , gene expression , biology , hyperphenylalaninemia , microbiology and biotechnology , biochemistry , amino acid

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.

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