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Human Heredity, Vol. 50, Iss. 4, 2000-04 ,pp. : 247-250

Karger

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Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations

By Clavero Sonia   Bishop David F.   Haskins Mark E.   Giger Urs   Kauppinen Raili   Desnick Robert J.  

Human Molecular Genetics, Vol. 19, Iss. 4, 2010-02 ,pp. : 584-596

Oxford University Press

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Identification of Three Mutations and Associated Haplotypes in the Protoporphyrinogen Oxidase Gene in South African Families with Variegate Porphyria

By Warnich Louise   Kotze Maritha J.   Groenewald Ilse M.   Groenewald Johannes Z.   van Brakel Maléne G.   van Heerden Carel J.   de Villiers J. Nico P.   van de Ven Wim J. M.   Schoenmakers Eric F.P.M.   Taketani Shigeru   Retief Andries E.  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 981-984

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Ancestral Founder of Mutation W283X in the Porphobilinogen Deaminase Gene among Acute Intermittent Porphyria Patients

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Mutations in the Protoporphyrinogen Oxidase Gene in Patients with Variegate Porphyria

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