(Q45029025)

8 December 2017

title

A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family (English)

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8 December 2017

0 references

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Hift RJ

1

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8 December 2017

Meissner D

series ordinal

2

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8 December 2017

Meissner PN

series ordinal

3

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8 December 2017

language of work or name

English

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publication date

1 August 2004

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British Journal of Dermatology

8 December 2017

published in

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8 December 2017

volume

151

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8 December 2017

issue

2

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8 December 2017

page(s)

465-471

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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

8 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06120.X

Spleen sizing by ultrasound in polycythaemia and thrombocythaemia: comparison with SPECT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06120.X

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06120.X

A rapid method for the isolation of genomic DNA from citrated whole blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06120.X

Porphyria variegata. Study of a large kindred in the United States

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06120.X

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06120.X

Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06120.X

10.1111/J.1365-2133.2004.06120.X

21 January 2018

Identifiers

DOI

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8 December 2017

1 reference