Mutation Screening by Denaturing Gradient Gel Electrophoresis in North American Patients with Acute Intermittent Porphyria-Reference-Cited by-同舟云学术

Mutation Screening by Denaturing Gradient Gel Electrophoresis in North American Patients with Acute Intermittent Porphyria

Published:1998-08-01 Issue:8 Volume:44 Page:1766-1768
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Petersen Niels Erik¹,Nissen Henrik¹,Hørder Mogens¹,Senz Janine²,Jamani Azim³,Schreiber William E²³

Affiliation:

1. Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, DK-5000 Odense C, Denmark and The Danish Centre of Porphyria;

2. Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, V6T 1W5 Canada;

3. Division of Clinical Chemistry, Vancouver Hospital and Health Sciences Centre, Vancouver, British Columbia, V5Z 1M9 Canada

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/44/8/1766/32720711/clinchem1766.pdf

Reference26 articles.

1. Prognosis of Acute Prophyria

2. Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

3. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.

4. High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

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