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Items: 1 to 20 of 225

1.

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria.

Güttler F, Ledley FD, Lidsky AS, DiLella AG, Sullivan SE, Woo SL.

J Pediatr. 1987 Jan;110(1):68-71.

PMID:
2878985
2.
3.
4.

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Chakraborty R, Lidsky AS, Daiger SP, Güttler F, Sullivan S, Dilella AG, Woo SL.

Hum Genet. 1987 May;76(1):40-6.

PMID:
2883110
5.

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

Rey F, Berthelon M, Caillaud C, Lyonnet S, Abadie V, Blandin-Savoja F, Feingold J, Saudubray JM, Frézal J, Munnich A, et al.

Am J Hum Genet. 1988 Dec;43(6):914-21.

6.

Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria.

Jaruzelska J, Borski K, Riess O, Blin N, Słomski R.

Acta Biochim Pol. 1989;36(3-4):323-32.

7.

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

Berthelon M, Caillaud C, Rey F, Labrune P, Melle D, Feingold J, Frézal J, Briard ML, Farriaux JP, Guibaud P, et al.

Hum Genet. 1991 Feb;86(4):355-8.

PMID:
1671847
8.

Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic.

Herrmann FH, Wulff K, Wehnert M, Seidlitz G, Güttler F.

Clin Genet. 1988 Sep;34(3):176-80.

PMID:
2902943
9.
10.

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population.

Lichter-Konecki U, Schlotter M, Yaylak C, Ozgüç M, Coskun T, Ozalp I, Wendel U, Batzler U, Trefz FK, Konecki D.

Hum Genet. 1989 Mar;81(4):373-6.

PMID:
2564839
11.

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

Caillaud C, Vilarinho L, Vilarinho A, Rey F, Berthelon M, Santos R, Lyonnet S, Briard ML, Osorio RV, Rey J, et al.

Hum Genet. 1992 Apr;89(1):69-72.

PMID:
1349566
12.

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families.

Stuhrmann M, Riess O, Mönch E, Kurdoglu G.

Clin Genet. 1989 Aug;36(2):117-21.

PMID:
2569949
13.
15.

Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia.

Kozák L, Dvoráková D, Pijácková A, Kamarýt J.

J Inherit Metab Dis. 1993;16(2):451-6.

PMID:
8105144
16.

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU).

Daiger SP, Chakraborty R, Reed L, Fekete G, Schuler D, Berenssi G, Nasz I, Brdicka R, Kamarýt J, Pijácková A, et al.

Am J Hum Genet. 1989 Aug;45(2):310-8.

17.

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

DiLella AG, Marvit J, Brayton K, Woo SL.

Nature. 1987 May 28-Jun 3;327(6120):333-6.

PMID:
2884570
18.

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

Okano Y, Wang T, Eisensmith RC, Steinmann B, Gitzelmann R, Woo SL.

Am J Hum Genet. 1990 Jan;46(1):18-25.

19.

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

Lichter-Konecki U, Schlotter M, Konecki DS, Labeit S, Woo SL, Trefz FK.

Hum Genet. 1988 Apr;78(4):347-52.

PMID:
2896156
20.

Haplotype distribution and mutations at the PAH locus in Croatia.

Barić I, Mardesić D, Gjurić G, Sarnavka V, Göbel-Schreiner B, Lichter-Konecki U, Konecki DS, Trefz FK.

Hum Genet. 1992 Sep-Oct;90(1-2):155-7.

PMID:
1358784
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