Pseudoexon Activation in the HMBS Gene as a Cause of the Nonerythroid Form of Acute Intermittent Porphyria-Reference-Cited by-同舟云学术

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Pseudoexon Activation in the HMBS Gene as a Cause of the Nonerythroid Form of Acute Intermittent Porphyria

Published:2013-07-01 Issue:7 Volume:59 Page:1123-1125
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Whatley Sharon D¹,Mason Nicola G¹,Rhodes Jonathan M²,Stewart M Felicity³⁴,Reed Paul⁴,Crowley Vivion⁵,Darby Cindy M⁵,Badminton Michael N¹⁶

Affiliation:

1. Department of Medical Biochemistry and Immunology University Hospital of Wales Cardiff, UK

2. Directorate of Gastroenterology and Hepatology Royal Liverpool University Hospital Liverpool, UK

3. University of Manchester Medical School Manchester Academic Health Science Centre Manchester, UK

4. Department of Clinical Biochemistry Salford Royal NHS Foundation Trust Salford, UK

5. Biochemistry Department St. James's Hospital Dublin, Ireland

6. Institute of Molecular and Experimental Medicine School of Medicine Cardiff University Cardiff, UK

Publisher

Oxford University Press (OUP)

Subject

Biochemistry, medical,Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/59/7/1123/32660374/clinchem1123.pdf

Reference5 articles.

1. The porphyrias and other disorders of porphyrin metabolism;Badminton,2012

2. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene;Whatley;Clin Chem,2009

3. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations;Whatley;Hum Genet,1999

4. Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression;Chretien;Proc Natl Acad Sci U S A,1988

5. Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies;Dir;FEBS J,2010

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