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Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe

✍ Scribed by I. Barić; D. Mardešić; V. Sarnavøka; U. Lichter-Konecki; D. S. Konecki; F. K. Trefz

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

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✍ Monique Berthelon; Catherine Caillaud; Françoise Rey; Philippe Labrune; Dominiqu 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 396 KB

A total of 252 chromosomes from 126 patients with phenylalanine hydroxylase (PAH) deficiencies were analyzed for both mutant genotypes and restriction fragment length polymorphism (RFLP) haplotypes at the PAH locus. The mutant genes studied originated either from Western Europe (116 alleles) or from