(Q28143875)

English

Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT

scientific article (publication date: 1999)

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scholarly article

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Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT (English)

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electrophoresis

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author name string

L Christiansen

1

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C Ged

2

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I Hombrados

3

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J Brons-Poulsen

4

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A Fontanellas

5

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H de Verneuil

6

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M Hørder

7

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N E Petersen

8

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language of work or name

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publication date

1999

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14

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3

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222-32

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Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria

1 reference

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21 January 2018

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

1 reference

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21 January 2018

The porphyrias: a brief overview based on 25 years of experience (1969-1994) by the Department of Dermatology of the Hospital Clinic and Faculty of Medicine of Barcelona, Spain

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Characterization and crystallization of human uroporphyrinogen decarboxylase

1 reference

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21 January 2018

A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients

1 reference

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21 January 2018

Structure of the gene for human uroporphyrinogen decarboxylase

1 reference

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Identification of a new mutation responsible for hepatoerythropoietic porphyria

1 reference

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Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria

1 reference

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21 January 2018

Crystal structure of human uroporphyrinogen decarboxylase

1 reference

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An improved PCR-based method for site directed mutagenesis using megaprimers

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Porphyria cutanea tarda

1 reference

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21 January 2018

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

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Nonsense mutations and diminished mRNA levels

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Identifiers

10.1002/(SICI)1098-1004(1999)14:3<222::AID-HUMU5>3.0.CO;2-V

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