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Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes

✍ Scribed by E. Svensson; L. Iselius; L. Hagenfeldt


Publisher
Springer
Year
1994
Tongue
English
Weight
485 KB
Volume
17
Category
Article
ISSN
0141-8955

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πŸ“œ SIMILAR VOLUMES


Gypsy phenylketonuria: A point mutation
✍ Kalanin, Jan ;Takarada, Yutaka ;Kagawa, Shohei ;Yamashita, Keiko ;Ohtsuka, Norim πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 508 KB

A direct mutational analysis of the phenylalanine hydroxylase gene (PAH) in Gypsy families with phenylketonuria (PKU) has not yet been presented. However, they obviously represent a group at high risk for this inherited disease. We analyzed the PAH loci of 65 Gypsies originating from Eastern Slovaki