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Haplotype analysis and a newMspl-polymorphism at the phenylalanine hydroxylase gene in the Arabian population

✍ Scribed by C. Bender; A. Büchler; B. schmidt-Mader; M. Schlotter; A. S. Teebi; D. S. Konecki; F. K. Trefz


Publisher
Springer
Year
1994
Tongue
English
Weight
111 KB
Volume
153
Category
Article
ISSN
0340-6997

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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