Concepedia

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

Monique Berthelon, Catherine Caillaud, Françoise Rey, Philippe Labrune, Dominique Melle, Josué Feingold, J Frézal, Marie‐Louise Briard, J. P. Farriaux, P Guibaud,

Human Genetics · 1991 · 29 citations · 8 references

DOI

Concepts

References

8

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

Randall K. Saiki, David H. Gelfand, Susanne Stoffel et al. · Science · 1988 · 17.2K citations

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Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

Simon C.M. Kwok, Fred D. Ledley, Anthony G. DiLella et al. · Biochemistry · 1985 · 323 citations

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Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

Anthony G. DiLella, Joshua Marvit, Alan S. Lidsky et al. · Nature · 1986 · 248 citations

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An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2

Anthony G. DiLella, Joshua Marvi, Kelly A. Brayton et al. · Nature · 1987 · 177 citations

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CpG dinucleotides are mutation hot spots in phenylketonuria

Véronique Abadie, Stanislas Lyonnet, Nicole Maurin et al. · Genomics · 1989 · 86 citations

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