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Journal Abstract Search

251 related items for PubMed ID: 30514647

  • 1. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
    Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ.
    Mol Genet Metab; 2019 Nov; 128(3):363-366. PubMed ID: 30514647
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  • 2. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
    Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taïeb A, Topi G, D'Alessandro L, de Verneuil H.
    Am J Hum Genet; 1996 Apr; 58(4):712-21. PubMed ID: 8644733
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  • 3. Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
    Mendez M, Rossetti MV, De Siervi A, del Carmen Batlle AM, Parera V.
    Hum Mutat; 2000 Sep; 16(3):269-70. PubMed ID: 10980536
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  • 5. Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
    Gómez-Abecia S, Morán-Jiménez MJ, Ruiz-Casares E, Henriques-Gil N, García-Pastor I, Garrido-Astray MC, Enríquez de Salamanca R, Méndez M.
    Gene; 2013 Jun 10; 522(1):89-95. PubMed ID: 23545314
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  • 7. Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
    McManus JF, Begley CG, Sassa S, Ratnaike S.
    Blood; 1996 Nov 01; 88(9):3589-600. PubMed ID: 8896428
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  • 10. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
    Mendez M, Sorkin L, Rossetti MV, Astrin KH, del C Batlle AM, Parera VE, Aizencang G, Desnick RJ.
    Am J Hum Genet; 1998 Nov 01; 63(5):1363-75. PubMed ID: 9792863
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  • 11. Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda.
    Camagna A, Del Duca P, Petrinelli P, Borelli LG, Ciancio L, Cipollone L, Misasi G, Manfredi MR, Dionisi S, de Martinis C.
    Am J Med Sci; 1998 Jan 01; 315(1):59-62. PubMed ID: 9427577
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  • 12. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
    Christiansen L, Ged C, Hombrados I, Brons-Poulsen J, Fontanellas A, de Verneuil H, Hørder M, Petersen NE.
    Hum Mutat; 1999 Jan 01; 14(3):222-32. PubMed ID: 10477430
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Rudnick S, Phillips J, Bonkovsky H, Porphyrias Consortium of the Rare Diseases Clinical Research Network.
    ; 1993 Jan 01. PubMed ID: 23741761
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    Shah A, Bhatt H.
    ; 2024 01 01. PubMed ID: 33085356
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