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Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population

✍ Scribed by Uta Lichter-Konecki; Magdalena Schlotter; David S. Konecki; Sigfried Labeit; Savio L. C. Woo; Friedrich K. Trefz


Publisher
Springer
Year
1988
Tongue
English
Weight
843 KB
Volume
78
Category
Article
ISSN
0340-6717

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RFLPs of 36 normal and 41 mutant alleles at the phenylalanine hydroxylase locus were determined in 31 Portuguese kindreds. A total of 14 haplotypes including 10 normal and 7 mutant alleles were observed. Almost 75% of all mutant alleles were confined within only two haplotypes, namely haplotype 9 (1

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✍ Irma Dianzani; Marcella Devoto; Clara Camaschella; Giuseppe Saglio; Giovanni Bat πŸ“‚ Article πŸ“… 1990 πŸ› Springer 🌐 English βš– 417 KB

In order to investigate the molecular basis of phenylketonuria (PKU) in Italy, we characterized the RFLP haplotypes at the phenylalanine hydroxylase gene in 38 unrelated Italian PKU families. The distribution of haplotypes associated with PKU alleles differs from that of other European populations.