Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP)

Author:

Solis Constanza,Lopez-Echaniz Idoia,Sefarty-Graneda David,Astrin Kenneth H.,Desnick Robert J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine

Reference28 articles.

1. Kappas A, Sassa S, Galbraith RA, Nordmann Y. (1995) The porphyrias. In: Scriver CS, Beaudet AL, Sly WS (eds). Metabolic and Molecular Bases of Inherited Disease, 7th ed. McGraw-Hill, New York, pp. 2103–2160.

2. McGovern MM, Anderson KE, Astrin KH, Desnick RJ. (1996) Inherited porphyrias. In: Rimoin DL, Connor JM, Pyeritz RE (eds). Emery and Rimoin’s Principles and Practice of Medical Genetics, 3rd ed. Churchill Livingstone, New York, pp. 2009–2037.

3. Mustajoki P. (1981) Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria. Ann. Intern. Med. 95: 162–166.

4. Bottomley SS, Bonkowsky HL, Kreimer-Birnbaum M. (1981) The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay. Am. J. Clin. Pathol. 76: 133–139.

5. Puy H, Deybach JC, Lamoril J, et al. (1997) Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am. J. Hum. Genet. 60: 1373–1383.

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