Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations-Reference-Cited by-同舟云学术

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Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations

Published:2005-08 Issue:4 Volume:37 Page:324-326
ISSN:0031-3025
Container-title:Pathology
language:en
Short-container-title:Pathology

Author:

Sies Christiaan W.,Davidson James S.,Florkowski Christopher M.,Johnson Roger N.,Potter Howard C.,Woollard Gerald A.,George Peter M.

Publisher

Elsevier BV

Subject

Pathology and Forensic Medicine

Reference11 articles.

1. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.;Meissner;Nat Genet,1996

2. Diagnosis of variegate porphyria - hard to get?;Von und zu Fraunberg;Scand J Clin Lab Invest,2000

3. Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria from Chile.;Frank;Hum Hered,2001

4. Variegate porphyria in Western Europe: identification of Ppox gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation.;Whatley;Am J Hum Genet,1999

5. Laboratory investigation of porphyrias.;Elder;Ann Clin Biochem,1990

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1. Laboratory Diagnosis of Porphyria;Diagnostics;2021-07-26

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