(Q50568218)

15 March 2018

title

Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda. (English)

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15 March 2018

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2

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author name string

Christiansen L

1

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15 March 2018

Jensen A

3

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Brandrup F

4

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Thomsen K

5

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15 March 2018

Horder M

6

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Petersen NE

7

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publication date

1 November 2000

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Scandinavian Journal of Clinical and Laboratory Investigation

published in

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volume

60

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issue

7

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page(s)

611-615

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15 March 2018

Structure of the gene for human uroporphyrinogen decarboxylase

cites work

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https://api.crossref.org/works/10.1080%2F003655100448365

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

Identification of a new mutation responsible for hepatoerythropoietic porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

Current methods of mutation detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

Screening techniques for detecting allelic variation in DNA sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

Crystal structure of human uroporphyrinogen decarboxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

21 January 2018

Porphyria cutanea tarda

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

Erythrocyte uroporphyrinogen decarboxylase activity in 80 unrelated patients with porphyria cutanea tarda

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

The difference in liver pathology between sporadic and familial forms of porphyria cutanea tarda: the role of iron

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F003655100448365

21 January 2018

Identifiers

DOI

10.1080/003655100448365

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15 March 2018

PubMed ID

11202053

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15 March 2018