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Items: 1 to 20 of 182

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.

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
3.

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
4.

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.

5.

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.

6.

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
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.

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
10.

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
11.

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.

12.

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
13.

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
14.
15.

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.

16.

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
17.
18.

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

Labrune P, Melle D, Rey F, Berthelon M, Caillaud C, Rey J, Munnich A, Lyonnet S.

Am J Hum Genet. 1991 Jun;48(6):1115-20.

19.
20.

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

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