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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

148 related items for PubMed ID: 12859407

  • 1. Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
    Wiman A, Harper P, Floderus Y.
    Clin Genet; 2003 Aug; 64(2):122-30. PubMed ID: 12859407
    [Abstract] [Full Text] [Related]

  • 2. Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
    von und zu Fraunberg M, Tenhunen R, Kauppinen R.
    Mol Med; 2001 May; 7(5):320-8. PubMed ID: 11474578
    [Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
    Whatley SD, Puy H, Morgan RR, Robreau AM, Roberts AG, Nordmann Y, Elder GH, Deybach JC.
    Am J Hum Genet; 1999 Oct; 65(4):984-94. PubMed ID: 10486317
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
    Frank J, Aita VM, Ahmad W, Lam H, Wolff C, Christiano AM.
    Hum Hered; 2001 Oct; 51(3):160-8. PubMed ID: 11173967
    [Abstract] [Full Text] [Related]

  • 10. Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria.
    Warnich L, Kimberg M, Kotze MJ, Ohashi T, Taketani S, Louw BJ.
    Cell Mol Biol (Noisy-le-grand); 2002 Feb; 48(1):57-60. PubMed ID: 11930946
    [Abstract] [Full Text] [Related]

  • 11. Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.
    Palmer RA, Elder GH, Barrett DF, Keohane SG.
    Br J Dermatol; 2001 Apr; 144(4):866-9. PubMed ID: 11298551
    [Abstract] [Full Text] [Related]

  • 12. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.
    Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG, Meissner DM, Kirsch RE, Dailey HA.
    Nat Genet; 1996 May; 13(1):95-7. PubMed ID: 8673113
    [Abstract] [Full Text] [Related]

  • 13. Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.
    Morgan RR, da SV, Puy H, Deybach JC, Elder GH.
    Cell Mol Biol (Noisy-le-grand); 2002 Feb; 48(1):79-82. PubMed ID: 11929051
    [Abstract] [Full Text] [Related]

  • 14. Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.
    Corrigall AV, Hift RJ, Davids LM, Hancock V, Meissner D, Kirsch RE, Meissner PN.
    Mol Genet Metab; 2001 May; 73(1):91-6. PubMed ID: 11350188
    [Abstract] [Full Text] [Related]

  • 15. Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations.
    Donnelly JG, Detombe S, Hindmarsh JT.
    Ann Clin Lab Sci; 2002 May; 32(2):107-13. PubMed ID: 12017191
    [Abstract] [Full Text] [Related]

  • 16. Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family.
    Corrigall AV, Hift RJ, Hancock V, Meissner D, Davids L, Kirsch RE, Meissner PN.
    Hum Mutat; 1998 May; 12(6):403-7. PubMed ID: 9829909
    [Abstract] [Full Text] [Related]

  • 17. Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
    Lam H, Dragan L, Tsou HC, Merk H, Peacocke M, Goerz G, Sassa S, Poh-Fitzpatrick M, Bickers DR, Christiano AM.
    Hum Genet; 1997 Jan; 99(1):126-9. PubMed ID: 9003509
    [Abstract] [Full Text] [Related]

  • 18. Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
    Frank J, Jugert FK, Breitkopf C, Goerz G, Merk HF, Christiano AM.
    Am J Med Genet; 1998 Aug 27; 79(1):22-6. PubMed ID: 9738863
    [Abstract] [Full Text] [Related]

  • 19. Variegate porphyria.
    Kirsch RE, Meissner PN, Hift RJ.
    Semin Liver Dis; 1998 Aug 27; 18(1):33-41. PubMed ID: 9516676
    [Abstract] [Full Text] [Related]

  • 20. Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
    Frank J, Lam H, Zaider E, Poh-Fitzpatrick M, Christiano AM.
    J Med Genet; 1998 Mar 27; 35(3):244-7. PubMed ID: 9541112
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.