Eiken HG - Search Results

1

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.

Eiken HG, Knappskog PM, Apold J, Flatmark T. Eiken HG, et al. Hum Mutat. 1996;7(3):228-38. doi: 10.1002/(SICI)1098-1004(1996)7:3<228::AID-HUMU7>3.0.CO;2-6. Hum Mutat. 1996. PMID: 8829656

2

A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.

Eiken HG, Knappskog PM, Apold J, Skjelkvåle L, Boman H. Eiken HG, et al. Hum Mutat. 1992;1(5):388-91. doi: 10.1002/humu.1380010507. Hum Mutat. 1992. PMID: 1301947

3

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.

Eiken HG, Stangeland K, Skjelkvåle L, Knappskog PM, Boman H, Apold J. Eiken HG, et al. Hum Genet. 1992 Mar;88(6):608-12. doi: 10.1007/BF02265283. Hum Genet. 1992. PMID: 1312992

4

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.

Eiken HG, Odland E, Boman H, Skjelkvåle L, Engebretsen LF, Apold J. Eiken HG, et al. Nucleic Acids Res. 1991 Apr 11;19(7):1427-30. doi: 10.1093/nar/19.7.1427. Nucleic Acids Res. 1991. PMID: 1851292 Free PMC article.

5

A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes.

Apold J, Eiken HG, Odland E, Fredriksen A, Bakken A, Lorens JB, Boman H. Apold J, et al. Among authors: eiken hg. Am J Hum Genet. 1990 Dec;47(6):1002-7. Am J Hum Genet. 1990. PMID: 1978553 Free PMC article.

6

The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.

Knappskog PM, Eiken HG, Martinez A, Flatmark T, Apold J. Knappskog PM, et al. Among authors: eiken hg. Hum Genet. 1995 Feb;95(2):171-3. doi: 10.1007/BF00209396. Hum Genet. 1995. PMID: 7860062

7

Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Isolation and characterization of the wild-type enzyme.

Martinez A, Knappskog PM, Olafsdottir S, Døskeland AP, Eiken HG, Svebak RM, Bozzini M, Apold J, Flatmark T. Martinez A, et al. Among authors: eiken hg. Biochem J. 1995 Mar 1;306 ( Pt 2)(Pt 2):589-97. doi: 10.1042/bj3060589. Biochem J. 1995. PMID: 7887915 Free PMC article.

8

Expression of wild type and mutant forms of human phenylalanine hydroxylase in E. coli.

Knappskog M, Eiken HG, Martinez A, Olafsdotti S, Haavik J, Flatmark T, Apold J. Knappskog M, et al. Among authors: eiken hg. Adv Exp Med Biol. 1993;338:59-62. doi: 10.1007/978-1-4615-2960-6_11. Adv Exp Med Biol. 1993. PMID: 8304187 No abstract available.

9

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Olsen TC, Eiken HG, Knappskog PM, Kase BF, Månsson JE, Boman H, Apold J. Olsen TC, et al. Among authors: eiken hg. Hum Genet. 1996 Feb;97(2):198-203. doi: 10.1007/BF02265265. Hum Genet. 1996. PMID: 8566953

10

DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations.

Eiken HG, Knappskog PM, Guldberg P, Apold J. Eiken HG, et al. Hum Mutat. 1996;8(1):19-22. doi: 10.1002/(SICI)1098-1004(1996)8:1<19::AID-HUMU2>3.0.CO;2-K. Hum Mutat. 1996. PMID: 8807331 No abstract available.

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