1. Abadie V, Lyonnet S, Melle D, Berthelon M, Caillaud C, Labrune P, Rey F, Rey J, Munnich A (1993) Molecular basis of phenylketonuria in France. Dev Brain Dysfunct 6:120–126
2. Apold J, Eiken HG, Odland E, Fredriksen A, Bakken A, Lorens JB, Boman H (1990) A termination mutation prevalent in Norwegian haplotype 7 phenylketonuria genes. Am J Hum Genet 47:1002–1007
3. Byck S, Morgan K, Tyfield L, Dworniczak B, Scriver CR (1994) Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations. Hum Mol Genet 3:1675–1677
4. Dianzani I, Forrest SM, Camaschella C, Saglio G, Ponzone A, Cotton GH (1991) Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: A new splice mutation. Am J Hum Genet 48:631–635
5. Dianzani I, Giannattasio S, Sanctis I de, Marra E, Ponzone A, Camaschella C, Piazza A (1994) Genetic history of phenylketonuria mutations in Italy. Am J Hum Genet 55:851–853