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

Clavero, Sonia; Bishop, David F; Haskins, Mark E; Giger, Urs; Kauppinen, Raili; Desnick, Robert J

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

Affiliation

Clavero S; Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029-6574, USA.

Hum Mol Genet ; 19(4): 584-96, 2010 Feb 15.

Article in En | MEDLINE | ID: mdl-19934113

Subject(s)

Cat Diseases/enzymology; Cats/genetics; Disease Models, Animal; Hydroxymethylbilane Synthase/genetics; Mutation; Porphyria, Acute Intermittent/enzymology; Porphyria, Erythropoietic/enzymology; Animals; Bone and Bones/metabolism; Cat Diseases/genetics; Cat Diseases/metabolism; Cats/metabolism; Coproporphyrins/urine; Female; Humans; Hydroxymethylbilane Synthase/chemistry; Hydroxymethylbilane Synthase/metabolism; Male; Models, Molecular; Molecular Sequence Data; Porphyria, Acute Intermittent/genetics; Porphyria, Acute Intermittent/metabolism; Porphyria, Erythropoietic/genetics; Porphyria, Erythropoietic/metabolism; Porphyrins/metabolism; Tooth/metabolism; Uroporphyrins/urine

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hydroxymethylbilane Synthase / Cat Diseases / Cats / Porphyria, Erythropoietic / Porphyria, Acute Intermittent / Disease Models, Animal / Mutation Limits: Animals / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2010 Type: Article Affiliation country: United States

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