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Items: 1 to 20 of 185

1.

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
2.

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
3.

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
4.

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
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.

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
7.

Recurrent mutation in the human phenylalanine hydroxylase gene.

Okano Y, Wang T, Eisensmith RC, Güttler F, Woo SL.

Am J Hum Genet. 1990 May;46(5):919-24.

8.

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.

9.

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

Lyonnet S, Caillaud C, Rey F, Berthelon M, Frézal J, Rey J, Munnich A.

Am J Hum Genet. 1989 Apr;44(4):511-7.

10.

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.

11.

Phenylketonuria missense mutations in the Mediterranean.

Okano Y, Wang T, Eisensmith RC, Longhi R, Riva E, Giovannini M, Cerone R, Romano C, Woo SL.

Genomics. 1991 Jan;9(1):96-103.

PMID:
1672294
12.

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
13.

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
14.

CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene.

Ramus SJ, Forrest SM, Saleeba JA, Cotton RG.

Hum Genet. 1992 Sep-Oct;90(1-2):147-8.

PMID:
1358783
15.
16.

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
17.

Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.

Wang T, Okano Y, Eisensmith RC, Lo WH, Huang SZ, Zeng YT, Yuan LF, Liu SR, Woo SL.

Genomics. 1992 May;13(1):230-1.

PMID:
1349576
18.

A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.

Eigel A, Dworniczak B, Kalaydjieva L, Horst J.

Hum Genet. 1991 Oct;87(6):739-41.

PMID:
1682235
20.

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
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