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Items: 1 to 20 of 187

1.

Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles.

Dworniczak B, Aulehla-Scholz C, Horst J.

Clin Genet. 1990 Oct;38(4):270-3.

PMID:
2268974
2.

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
3.

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
4.

PAH 399 GTA (Val)----GTT(Val), a new silent mutation found in the Chinese.

Huang SZ, Ren ZR, Zeng YT, Woo SL.

Hum Genet. 1991 Jan;86(3):305-6.

PMID:
1997387
5.

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
6.
7.

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
8.

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

Dworniczak B, Aulehla-Scholz C, Horst J.

Hum Genet. 1989 Dec;84(1):95-6.

PMID:
2606484
9.
10.

Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.

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

Eur J Pediatr. 1989 Nov;149(2):120-3.

PMID:
2591403
12.
13.

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.

Svensson E, Eisensmith RC, Dworniczak B, von Döbeln U, Hagenfeldt L, Horst J, Woo SL.

Hum Mutat. 1992;1(2):129-37.

PMID:
1301200
14.

The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.

Lüleyap HU, Alptekin D, Pazarbaşi A, Kasap M, Kasap H, Demirhindi H, Mungan N, Ozer G, Froster UG.

Mutat Res. 2006 Oct 10;601(1-2):39-45. Epub 2006 Jun 12.

PMID:
16765994
15.

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
16.

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
17.

Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).

Haefele MJ, White G, McDonald JD.

Mol Genet Metab. 2001 Jan;72(1):27-30.

PMID:
11161825
18.

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
19.

Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.

Acosta A, Silva W Jr, Carvalho T, Gomes M, Zago M.

Hum Mutat. 2001 Feb;17(2):122-30.

PMID:
11180595
20.

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