These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 1427766)

  • 1. Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.
    Mgone CS; Lanyon WG; Moore MR; Connor JM
    Hum Genet; 1992; 90(1-2):12-6. PubMed ID: 1427766
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
    Mgone CS; Lanyon WG; Moore MR; Louie GV; Connor JM
    Hum Genet; 1993 Dec; 92(6):619-22. PubMed ID: 8262523
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping.
    Daimon M; Yamatani K; Igarashi M; Fukase N; Ogawa A; Tominaga M; Sasaki H
    Hum Genet; 1993 Dec; 92(6):549-53. PubMed ID: 8262514
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria.
    Morita Y; Daimon M; Kashiwaba M; Yamatani K; Igarashi M; Fukase N; Ohnuma H; Ikezawa Y; Sugiyama K; Manaka H
    Jpn J Hum Genet; 1995 Jun; 40(2):207-13. PubMed ID: 7663002
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
    Gu XF; de Rooij F; de Baar E; Bruyland M; Lissens W; Nordmann Y; Grandchamp B
    Hum Mol Genet; 1993 Oct; 2(10):1735-6. PubMed ID: 8268934
    [No Abstract]   [Full Text] [Related]  

  • 6. Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.
    Llewellyn DH; Whatley S; Elder GH
    Hum Mol Genet; 1993 Aug; 2(8):1315-6. PubMed ID: 8401516
    [No Abstract]   [Full Text] [Related]  

  • 7. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
    Ulbrichova D; Hrdinka M; Saudek V; Martasek P
    FEBS J; 2009 Apr; 276(7):2106-15. PubMed ID: 19292878
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria.
    Schreiber WE; Fong F; Nassar BA; Jamani A
    Hum Genet; 1995 Aug; 96(2):161-6. PubMed ID: 7635464
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of five novel mutations in the porphobilinogen deaminase gene.
    Mgone CS; Lanyon WG; Moore MR; Louie GV; Connor JM
    Hum Mol Genet; 1994 May; 3(5):809-11. PubMed ID: 8081367
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia].
    Pivnik AV; Pustovoĭt IaS; Karpova IV; Surin VL; Luk'ianenko AV
    Ter Arkh; 2000; 72(7):5-8. PubMed ID: 10983313
    [No Abstract]   [Full Text] [Related]  

  • 11. Detection of four mutations in six unrelated South African patients with acute intermittent porphyria.
    Ong PM; Lanyon WG; Hift RJ; Halkett J; Moore MR; Mgone CS; Connor JM
    Mol Cell Probes; 1996 Feb; 10(1):57-61. PubMed ID: 8684377
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria.
    Schreiber WE; Fong F; Jamani A
    Hum Genet; 1994 May; 93(5):552-6. PubMed ID: 8168833
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
    De Siervi A; Rossetti MV; Parera VE; Astrin KH; Aizencang GI; Glass IA; Batlle AM; Desnick RJ
    Am J Med Genet; 1999 Oct; 86(4):366-75. PubMed ID: 10494093
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
    Lundin G; Lee JS; Thunell S; Anvret M
    Hum Genet; 1997 Jul; 100(1):63-6. PubMed ID: 9225970
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.
    Rosipal R; Puy H; Lamoril J; Martasek P; Nordmann Y; Deybach JC
    Scand J Clin Lab Invest; 1997 May; 57(3):217-24. PubMed ID: 9238757
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
    Mustajoki S; Kauppinen R; Mustajoki P; Suomalainen A; Peltonen L
    Genome Res; 1997 Nov; 7(11):1054-60. PubMed ID: 9371741
    [TBL] [Abstract][Full Text] [Related]  

  • 17. CRIM-positive mutations of acute intermittent porphyria in Finland.
    Kauppinen R; Peltonen L; Pihlaja H; Mustajoki P
    Hum Mutat; 1992; 1(5):392-6. PubMed ID: 1301948
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
    Lundin G; Wedell A; Thunell S; Anvret M
    Hum Genet; 1994 Jan; 93(1):59-62. PubMed ID: 8270256
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular basis of acute intermittent porphyria.
    Wood S; Lambert R; Jordan PM
    Mol Med Today; 1995 Aug; 1(5):232-9. PubMed ID: 17607885
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
    Brownlie PD; Lambert R; Louie GV; Jordan PM; Blundell TL; Warren MJ; Cooper JB; Wood SP
    Protein Sci; 1994 Oct; 3(10):1644-50. PubMed ID: 7849582
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.