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

100%

Zekanowski C., Perez B., Desviat L. R., Wiszniewski W., Ugarte M.

Acta Biochimica Polonica

2000

tom 47

nr 2

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.

Haplotype analysis of phenylalanine hydroxylase alleles in Polish families with phenylketonuria

84%

Jaruzelska J., Borski K., Riess O., Blin N., Slomski R.

Acta Biochimica Polonica

1989

tom 36

nr 3-4

Ograniczanie wyników

2 Acta Biochimica Polonica

1 Blin N.

1 Borski K.

1 Desviat L. R.

1 Jaruzelska J.

1 Perez B.

1 Riess O.

1 Slomski R.

1 Ugarte M.

1 Wiszniewski W.

1 Zekanowski C.

1 2000

1 1989

Wyniki wyszukiwania

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

Haplotype analysis of phenylalanine hydroxylase alleles in Polish families with phenylketonuria