Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis

Author:

Tchernitchko D,Lamoril J,Puy H,Robreau A.M,Bogard C,Rosipal R,Gouya L,Deybach J.C,Nordmann Y

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference36 articles.

1. Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease, 7th edn., vol. 1. New York: McGraw-Hill, 1995:2103–59.

2. Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France;Nordmann;J Intern Med,1997

3. Assignment of human PBG deaminase to 11q24.1-q24.2 by in situ hybridization and gene dosage studies;Namba;Cytogenet Cell Genet,1991

4. Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene;Yoo;Genomics,1993

5. Screening tests in acute porphyria;Lamon;Arch Neurol,1977

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