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

By  

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

Karger

Access to resources Recommend Favorite

Identification of a Founder Mutation in the Protoporphyrinogen Oxidase Gene in Variegate Porphyria Patients from Chile

By  

Human Heredity, Vol. 51, Iss. 3, 2001-01 ,pp. : 160-168

Karger

Access to resources Recommend Favorite

Identification of Two Novel Mutations in the Hydroxymethylbilane Synthase Gene in Three Patients from Two Unrelated Families with Acute Intermittent Porphyria

By  

Human Heredity, Vol. 48, Iss. 1, 1998-01 ,pp. : 24-29

Karger

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite