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Items: 1 to 20 of 136

2.

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
3.

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

van der Sijs-Bos CJ, Diepstraten CM, Juyn JA, Plaisier M, Giltay JC, van Spronsen FJ, Smit GP, Berger R, Smeitink JA, Poll-The BT, Ploos van Amstel JK.

Hum Hered. 1996 Jul-Aug;46(4):185-90.

PMID:
8807319
4.

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.

Carter KC, Byck S, Waters PJ, Richards B, Nowacki PM, Laframboise R, Lambert M, Treacy E, Scriver CR.

Eur J Hum Genet. 1998 Jan;6(1):61-70.

5.

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, Indelicato A, Mollica F, Meli C, Giovannini M, Riva E, et al.

Hum Mol Genet. 1993 Oct;2(10):1703-7.

PMID:
8268925
6.

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
7.
9.

Origins of hyperphenylalaninemia in Israel.

Kleiman S, Avigad S, Vanagaite L, Shmuelevitz A, David M, Eisensmith RC, Brand N, Schwartz G, Rey F, Munnich A, Woo SL, Shiloh Y.

Eur J Hum Genet. 1994;2(1):24-34.

PMID:
7913865
10.

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
11.

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.

Weinstein M, Eisensmith RC, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, Woo SL, Shiloh Y.

Hum Genet. 1993 Feb;90(6):645-9.

PMID:
8095248
12.

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.

13.

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
14.

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
15.

The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.

Güttler F, Guldberg P.

Eur J Pediatr. 1996 Jul;155 Suppl 1:S6-10. Review.

PMID:
8828600
16.

In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.

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

Hum Mutat. 1992;1(2):147-53.

PMID:
1301201
17.

A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.

Kleiman S, Bernstein J, Schwartz G, Eisensmith RC, Woo SL, Shiloh Y.

Hum Mutat. 1992;1(4):340-3.

PMID:
1301942
18.

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
19.

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.

Svensson E, von Döbeln U, Eisensmith RC, Hagenfeldt L, Woo SL.

Eur J Pediatr. 1993 Feb;152(2):132-9.

PMID:
8444221
20.

A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.

Gjetting T, Romstad A, Haavik J, Knappskog PM, Acosta AX, Silva WA Jr, Zago MA, Guldberg P, Güttler F.

Mol Genet Metab. 2001 Jul;73(3):280-4.

PMID:
11461196
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