Mutations in the Protoporphyrinogen Oxidase Gene in Patients with Variegate Porphyria

By Deybach Jean-Charles   Puy Hervé   Robréau Anne-Marie   Lamoril Jérôme   Da Silva Vasco   Grandchamp Bernard   Nordmann Yves  

Human Molecular Genetics, Vol. 5, Iss. 3, 1996-01 ,pp. : 407-410

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

Oxford University Press

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

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Human Heredity, Vol. 54, Iss. 2, 2003-01 ,pp. : 69-81

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Haplotype Study in Argentinean Variegate Porphyria Patients

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Human Heredity, Vol. 80, Iss. 3, 2016-05 ,pp. : 139-143

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Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria

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

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