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Items: 1 to 20 of 123

1.

Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.

Zygulska M, Eigel A, Dworniczak B, Sutkowska A, Pietrzyk JJ, Horst J.

Hum Genet. 1991 Nov;88(1):91-4.

PMID:
1683647
2.

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria.

Jaruzelska J, Henriksen KF, Güttler F, Riess O, Borski K, Blin N, Slomski R.

Hum Genet. 1991 Jan;86(3):247-50.

PMID:
1671768
3.

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.

Hofman KJ, Antonarakis SE, Missiou-Tsangaraki S, Boehm CD, Valle D.

Mol Biol Med. 1989 Jun;6(3):245-50.

PMID:
2615649
4.

Molecular analysis of PKU haplotypes in the population of southern Poland.

Zygulska M, Eigel A, Aulehla-Scholz C, Pietrzyk JJ, Horst J.

Hum Genet. 1991 Jan;86(3):292-4.

PMID:
1671770
5.

Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

Lin CH, Hsiao KJ, Tsai TF, Chao HK, Su TS.

Hum Genet. 1992 Aug;89(6):593-6.

PMID:
1355066
6.

Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

Dworniczak B, Grudda K, Stümper J, Bartholomé K, Aulehla-Scholz C, Horst J.

Genomics. 1991 Jan;9(1):193-9.

PMID:
1672290
7.

Identification of a new missense mutation in Japanese phenylketonuric patients.

Goebel-Schreiner B, Schreiner R.

J Inherit Metab Dis. 1993;16(6):950-6. Erratum in: J Inherit Metab Dis 1994;17(1):66.

PMID:
8068076
8.

A new single base substitution in a Japanese phenylketonuria (PKU) patient.

Shirahase W, Oya N, Shimada M.

Brain Dev. 1991 Jul;13(4):283-4.

PMID:
1683521
9.

The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.

Konecki DS, Schlotter M, Trefz FK, Lichter-Konecki U.

Hum Genet. 1991 Aug;87(4):389-93.

PMID:
1679030
10.

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
11.

Genetic background of clinical homogeneity of phenylketonuria in Poland.

Jaruzelska J, Matuszak R, Lyonnet S, Rey F, Rey J, Filipowicz J, Borski K, Munnich A.

J Med Genet. 1993 Mar;30(3):232-4.

12.

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Desviat LR, Pérez B, Ugarte M.

Hum Genet. 1993 Oct 1;92(3):254-8.

PMID:
8104860
13.

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
14.

Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.

Eiken HG, Knappskog PM, Boman H, Thune KS, Kaada G, Motzfeldt K, Apold J.

Eur J Hum Genet. 1996;4(4):205-13.

PMID:
8875186
15.

Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.

Kozák L, Kuhrová V, Blazková M, Romano V, Fajkusová L, Dvoráková D, Pijácková A.

Hum Genet. 1995 Oct;96(4):472-6.

PMID:
7557973
16.

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.

Wang T, Okano Y, Eisensmith RC, Fekete G, Schuler D, Berencsi G, Nasz I, Woo SL.

Somat Cell Mol Genet. 1990 Jan;16(1):85-90.

PMID:
2309142
17.

Novel PKU mutation on haplotype 2 in French-Canadians.

John SW, Rozen R, Laframboise R, Laberge C, Scriver CR.

Am J Hum Genet. 1989 Dec;45(6):905-9.

18.

[Genetic diagnosis of phenylketonuria. IV. Mutations of phenylalanine hydroxylase gene in Caucasian and Gypsy populations in Czech and Slovakia Republics].

Takarada Y, Yamashita K, Kalanin J, Kagawa S, Matsuoka A.

Rinsho Byori. 1994 Nov;42(11):1165-71. Japanese.

PMID:
7844888
19.

RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.

Meijer H, Jongbloed RJ, Hekking M, Spaapen LJ, Geraedts JP.

Hum Genet. 1993 Dec;92(6):588-92.

PMID:
7903270
20.

Two distinct mutations at a single BamHI site in phenylketonuria.

Melle D, Verelst P, Rey F, Berthelon M, François B, Munnich A, Lyonnet S.

J Med Genet. 1991 Jan;28(1):38-40.

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