Detection of a R173W Mutation in the Porphobilinogen Deaminase Gene in the Nova Scotian “Foreign Protestant” Population with Acute Intermittent Porphyria: a Founder Effect

Author:

Greene-Davis Sheena T,Neumann Paul E,Mann O.Elizabeth,Moss Michael A,Schreiber William E,Welch J.Philip,Langley G.Ross,Sangalang Vergilio E,Dempsey Gale I,Nassar Bassam A

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference41 articles.

1. Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: The metabolic and molecular basis of inherited disease. (Eds. Scriver CR, Beaudet AL, Sly WS, Valle D),: Pp. 2103\N59. New York, NY: McGraw-Hill, Inc., 1995.

2. Molecular genetics of disorders of haem biosynthesis;Elder;J Clin Path,1993

3. Review;Moore;Int J Biochem,1993

4. Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase;Raich;Nucleic Acids Res,1986

5. Hydroxymethylbilane synthase;Yoo;Genomics,1993

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