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Mutation analysis anticipates dietary requirements in phenylketonuria

✍ Scribed by Fleming Güttler, Per Guldberg

Book ID
120907876
Publisher
Springer
Year
2000
Tongue
English
Weight
106 KB
Volume
159
Category
Article
ISSN
0340-6997

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Mutation analysis of phenylketonuria in
Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations
✍ Belén Pérez; Lourdes R. Desviat; Mar Die; Magdalena Ugarte 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 211 KB

We have screened seven Spanish phenylketonuric (PKU) families for the most prevalent Mediterranean and Caucasian mutations, and have subsequently found mutations P281L and IVS10. We have analyzed these two mutations in 23 of our patients. The frequencies found correspond to those of Mediterranean co