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

Author:

Ramdall Risha B.,Cunha Luis,Astrin Kenneth H.,Katz David R.,Anderson Karl E.,Glucksnian Marc,Bottomley Sylvia S.,Desnick Robert J.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference31 articles.

1. Inherited porphyrias;McGovern,1996

2. The porphyrias;Kappas,1995

3. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In; Scriver C, Beaudet A, Sly W, Valle D, Kinzler K, Vogeistein B, editors. The metabolic and molecular bases of inherited diseases, 8th ed. New York: McGraw-Hill, in press.

4. The diagnosis of acute intermittent porphyria: usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay;Bottomley;Am J Clin Pathol,1981

5. Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: a Bayesian approach;Bonaiti-Pellie;Am J Med Genet,1984

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