Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.

Ramdall, R B; Cunha, L; Astrin, K H; Katz, D R; Anderson, K E; Glucksman, M; Bottomley, S S; Desnick, R J

Ramdall, R B; Cunha, L; Astrin, K H; Katz, D R; Anderson, K E; Glucksman, M; Bottomley, S S; Desnick, R J.

Affiliation

Ramdall RB; Departments of Human Genetic, Mount Sinai School of Medicine, New York, New York 10029, USA.

Genet Med ; 2(5): 290-5, 2000.

Article in En | MEDLINE | ID: mdl-11399210

Subject(s)

Amino Acid Substitution; Hydroxymethylbilane Synthase/genetics; Mutation, Missense; Porphyria, Acute Intermittent/genetics; Female; Gene Expression; Heme/biosynthesis; Heme/genetics; Humans; Hydroxymethylbilane Synthase/metabolism; Male; Porphyria, Acute Intermittent/enzymology

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Collection: 01-internacional Database: MEDLINE Main subject: Hydroxymethylbilane Synthase / Porphyria, Acute Intermittent / Amino Acid Substitution / Mutation, Missense Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2000 Type: Article Affiliation country: United States

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