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Volumn 9, Issue 1, 1997, Pages 88-90

Phenylketonuria splice mutation (EXON6nt-96A→g) masquerading as missense mutation (Y204C)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; MESSENGER RNA; PHENYLALANINE 4 MONOOXYGENASE;

EID: 0031028927     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:1<88::AID-HUMU21>3.0.CO;2-K     Document Type: Article
Times cited : (30)

References (8)
  • 1
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    • A suggested nomenclature for designating mutations
    • Beaudet AL, Tsui LC (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248.
    • (1993) Hum Mutat , vol.2 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.C.2
  • 2
    • 0000511029 scopus 로고
    • Illegitimate transcription: Transcription of any gene in any cell type
    • Chelly J, Concordet JP, Kaplan JC, Kahn A (1989) Illegitimate transcription: Transcription of any gene in any cell type. Proc Natl Acad Sci USA 86:2617-2621.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2617-2621
    • Chelly, J.1    Concordet, J.P.2    Kaplan, J.C.3    Kahn, A.4
  • 3
    • 0028109263 scopus 로고
    • Delineation of the catalytic core of phenylalanine hydroxylase and identification of glutamate 286 as a critical residue for pterin function
    • Dickson PW, Jennings IG, Cotton RGH (1994) Delineation of the catalytic core of phenylalanine hydroxylase and identification of glutamate 286 as a critical residue for pterin function. J Biol Chem 269:20369-20375.
    • (1994) J Biol Chem , vol.269 , pp. 20369-20375
    • Dickson, P.W.1    Jennings, I.G.2    Cotton, R.G.H.3
  • 5
    • 0022469274 scopus 로고
    • Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria
    • DiLella AG, Marvit J, Lidsky AS, Guttler F, Woo SLC (1986) Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322:799-803.
    • (1986) Nature , vol.322 , pp. 799-803
    • DiLella, A.G.1    Marvit, J.2    Lidsky, A.S.3    Guttler, F.4    Woo, S.L.C.5
  • 6
    • 0030008190 scopus 로고    scopus 로고
    • PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enryme
    • Eiken HG, Knappskog PM, Apold J, Flatmark T (1996) PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enryme. Hum Mutat 7:228-238.
    • (1996) Hum Mutat , vol.7 , pp. 228-238
    • Eiken, H.G.1    Knappskog, P.M.2    Apold, J.3    Flatmark, T.4
  • 7
    • 0026740026 scopus 로고
    • Updated listing of haplotypes at the human phenylalanine hydroxylase locus
    • Eisensmith RC, Woo SLC (1992) Updated listing of haplotypes at the human phenylalanine hydroxylase locus. Am J Hum Genet 51:1445-1448.
    • (1992) Am J Hum Genet , vol.51 , pp. 1445-1448
    • Eisensmith, R.C.1    Woo, S.L.C.2
  • 8
    • 0029796673 scopus 로고    scopus 로고
    • PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems
    • Knappskog PM, Eiken HG, Martine: A, Apold J, Flatmark T (1996) PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems. Hum Mutat 8:236-246.
    • (1996) Hum Mutat , vol.8 , pp. 236-246
    • Knappskog, P.M.1    Eiken, H.G.2    Martine, A.3    Apold, J.4    Flatmark, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.