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The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency

✍ Scribed by F. Güttler; P. Guldberg


Publisher
Springer
Year
1996
Tongue
English
Weight
506 KB
Volume
155
Category
Article
ISSN
0340-6997

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The molecular basis of phenylalanine hyd
✍ Johannes Zschocke; Astrid Preusse; Vladimir Sarnavka; Ksenija Fumic; Duško Marde 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB

We present the results of a comprehensive analysis of mutations, polymorphisms and haplotypes in the phenylalanine hydroxylase (PAH) gene in 39 Croatian families with phenylketonuria (PKU). A total of 21 disease-causing mutations was identified on 78 out of 79 independent chromosomes. The commonest