Literature DB >> 3808142

Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase.

J H Wilson, F W De Rooy, K Te Velde.   

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Year:  1986        PMID： 3808142

Source DB:  PubMed          Journal:  Neth J Med        ISSN： 0300-2977            Impact factor:   1.422


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  7 in total

1.  RFLP analysis of three different types of acute intermittent porphyria.

Authors:  R Kauppinen; L Peltonen; A Palotie; P Mustajoki
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

2.  Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

Authors:  H Puy; J C Deybach; J Lamoril; A M Robreau; V Da Silva; L Gouya; B Grandchamp; Y Nordmann
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

3.  A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.

Authors:  B Grandchamp; C Picat; F de Rooij; C Beaumont; P Wilson; J C Deybach; Y Nordmann
Journal:  Nucleic Acids Res       Date:  1989-08-25       Impact factor: 16.971

4.  Tissue-specific splicing mutation in acute intermittent porphyria.

Authors:  B Grandchamp; C Picat; V Mignotte; J H Wilson; K Te Velde; L Sandkuyl; P H Roméo; M Goossens; Y Nordmann
Journal:  Proc Natl Acad Sci U S A       Date:  1989-01       Impact factor: 11.205

Review 5.  Porphobilinogen deaminase gene structure and molecular defects.

Authors:  J C Deybach; H Puy
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

6.  Biochemical basis of 5-aminolaevulinic acid-induced protoporphyrin IX accumulation: a study in patients with (pre)malignant lesions of the oesophagus.

Authors:  P Hinnen; F W de Rooij; M L van Velthuysen; A Edixhoven; R van Hillegersberg; H W Tilanus; J H Wilson; P D Siersema
Journal:  Br J Cancer       Date:  1998-09       Impact factor: 7.640

7.  Adjuvant intraoperative photodynamic therapy diminishes the rate of local recurrence in a rat mammary tumour model.

Authors:  R van Hillegersberg; J M Hekking-Weijma; J H Wilson; A Edixhoven-Bosdijk; W J Kort
Journal:  Br J Cancer       Date:  1995-04       Impact factor: 7.640
  7 in total

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