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Items: 1 to 20 of 223

1.

Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.

Abadie V, Jaruzelska J, Lyonnet S, Millasseau P, Berthelon M, Rey F, Munnich A, Rey J.

Hum Mol Genet. 1993 Jan;2(1):31-4.

PMID:
8098245
2.
3.

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.

Lichter-Konecki U, Konecki DS, DiLella AG, Brayton K, Marvit J, Hahn TM, Trefz FK, Woo SL.

Biochemistry. 1988 Apr 19;27(8):2881-5.

PMID:
2840952
4.

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
5.

Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.

Bénit P, Rey F, Melle D, Munnich A, Rey J.

Hum Mutat. 1994;4(3):229-31. No abstract available.

PMID:
7833954
6.
7.

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
8.

CpG dinucleotides are mutation hot spots in phenylketonuria.

Abadie V, Lyonnet S, Maurin N, Berthelon M, Caillaud C, Giraud F, Mattei JF, Rey J, Rey F, Munnich A.

Genomics. 1989 Nov;5(4):936-9.

PMID:
2574153
9.

A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.

Jaruzelska J, Melle D, Matuszak R, Borski K, Munnich A.

Hum Mol Genet. 1992 Dec;1(9):763-4. No abstract available.

PMID:
1363837
10.

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
11.

[Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].

Song F, Jin YW, Wang H, Yang YL, Zhang YM, Zhang T.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2003 Apr;25(2):142-4. Chinese.

PMID:
12905706
12.
13.

Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

Dianzani I, Camaschella C, Saglio G, Ferrero GB, Ramus S, Ponzone A, Cotton RG.

J Med Genet. 1993 Mar;30(3):228-31.

14.

[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China].

Song L, Dang L, Meng Y, Fu B.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):7-12. doi: 10.3760/cma.j.issn.1003-9406.2010.01.002. Chinese.

PMID:
20140859
15.

[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].

Yan YS, Wang Z, Hao SJ, Meng Y, Zheng L, Huang SZ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Aug;26(4):419-22. Chinese.

PMID:
20017307
16.

Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?

Dworniczak B, Kalaydjieva L, Pankoke S, Aulehla-Scholz C, Allen G, Horst J.

Hum Mutat. 1992;1(2):138-46.

PMID:
1363786
17.

The molecular basis of phenylalanine hydroxylase deficiency in Croatia.

Zschocke J, Preusse A, Sarnavka V, Fumic K, Mardesic D, Hoffmann GF, Baric I.

Hum Mutat. 2003 Apr;21(4):399.

PMID:
12655552
18.

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.

19.

[Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria].

Skriabin BV, Koval'chuk LA, Khal'chitskiĭ SE, Gol'tsov AA, Kaboev OK, Plutalov OV, Berlin IuA, Shvarts EI.

Bioorg Khim. 1989 Dec;15(12):1690-2. Russian.

PMID:
2634967
20.

A new PKU mutation associated with haplotype 12.

Desviat LR, Pérez B, Ugarte M.

Hum Mol Genet. 1992 Dec;1(9):765-6. No abstract available.

PMID:
1363838

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