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 *

174 related articles for article (PubMed ID: 8270256)

  • 1. 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]  

  • 2. Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.
    Szlendak U; Lipniacka A; Bianketti J; Podolak-Dawidziak M; Bykowska K
    Adv Clin Exp Med; 2015; 24(1):63-8. PubMed ID: 25923088
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 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. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.
    Lee JS; Anvret M
    Proc Natl Acad Sci U S A; 1991 Dec; 88(23):10912-5. PubMed ID: 1961762
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia].
    Surin VL; Luk'ianenko AV; Karpova IV; Misiurin AV; Pustovot IaS; Pivnik AV
    Genetika; 2001 May; 37(5):690-7. PubMed ID: 11436563
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect.
    Greene-Davis ST; Neumann PE; Mann OE; Moss MA; Schreiber WE; Welch JP; Langley GR; Sangalang VE; Dempsey GI; Nassar BA
    Clin Biochem; 1997 Dec; 30(8):607-12. PubMed ID: 9455613
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.
    Puy H; Gross U; Deybach JC; Robréau AM; Frank M; Nordmann Y; Doss M
    Hum Genet; 1998 Nov; 103(5):570-5. PubMed ID: 9860299
    [TBL] [Abstract][Full Text] [Related]  

  • 12. High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria.
    Gu XF; de Rooij F; Lee JS; Te Velde K; Deybach JC; Nordmann Y; Grandchamp B
    Hum Genet; 1993 Mar; 91(2):128-30. PubMed ID: 8096492
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.
    Schneider-Yin X; Hergersberg M; Goldgar DE; Rüfenacht UB; Schuurmans MM; Puy H; Deybach JC; Minder EI
    Hum Hered; 2002; 54(2):69-81. PubMed ID: 12566739
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
    Robreau-Fraolini AM; Puy H; Aquaron C; Bogard C; Traore M; Nordmann Y; Aquaron R; Deybach JC
    Hum Genet; 2000 Aug; 107(2):150-9. PubMed ID: 11030413
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
    Lundin G; Hashemi J; Floderus Y; Thunell S; Sagen E; Laegreid A; Wassif W; Peters T; Anvret M
    J Med Genet; 1995 Dec; 32(12):979-81. PubMed ID: 8825929
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.
    Schuurmans MM; Schneider-Yin X; Rüfenacht UB; Schnyder C; Minder CE; Puy H; Deybach JC; Minder EI
    Mol Med; 2001 Aug; 7(8):535-42. PubMed ID: 11591889
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
    Puy H; Deybach JC; Lamoril J; Robreau AM; Da Silva V; Gouya L; Grandchamp B; Nordmann Y
    Am J Hum Genet; 1997 Jun; 60(6):1373-83. PubMed ID: 9199558
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].
    Surin VL; Luchinina IuA; Selivanova DS; Pustovoĭt IaS; Karpova IS; Pivnik AV; Luk'ianenko AV; Kravchenko SK
    Genetika; 2010 Apr; 46(4):540-52. PubMed ID: 20536026
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.