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Journal Abstract Search

1367 related items for PubMed ID: 12699245

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  • 5. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
    Loskove Y, Yasuda M, Chen B, Nazarenko I, Cody N, Desnick RJ.
    Mol Genet Metab; 2019 Nov; 128(3):352-357. PubMed ID: 30385147
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  • 7. Dual porphyria with mutations in both the UROD and HMBS genes.
    Harraway JR, Florkowski CM, Sies C, George PM.
    Ann Clin Biochem; 2006 Jan; 43(Pt 1):80-2. PubMed ID: 16390615
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  • 9. 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 Jan; 12(6):403-7. PubMed ID: 9829909
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  • 12. Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
    Schneider-Yin X, van Tuyll van Serooskerken AM, Siegesmund M, Went P, Barman-Aksözen J, Bladergroen RS, Komminoth P, Cloots RH, Winnepenninckx VJ, zur Hausen A, Weber M, Driessen A, Poblete-Gutiérrez P, Bauer P, Schroeder C, van Geel M, Minder EI, Frank J.
    J Hepatol; 2015 Mar; 62(3):734-8. PubMed ID: 25445397
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  • 16. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
    Yasuda M, Chen B, Desnick RJ.
    Mol Genet Metab; 2019 Nov; 128(3):320-331. PubMed ID: 30594473
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  • 17. 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
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  • 19. Modern diagnosis and management of the porphyrias.
    Sassa S.
    Br J Haematol; 2006 Nov; 135(3):281-92. PubMed ID: 16956347
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