Literature DB >> 2892774

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

H de Verneuil1, J Hansen, C Picat, B Grandchamp, J Kushner, A Roberts, G Elder, Y Nordmann.   

Abstract

The prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria (HEP) was investigated by the use of hybridization with a synthetic oligonucleotide probe. The mutation was found in HEP-affected members of two unrelated families from Spain, but was absent in two other patients from Italy and Portugal who also had HEP. Moreover, this mutation was not detected in 13 unrelated cases of familial (type II) porphyria cutanea tarda.

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Year:  1988        PMID： 2892774     DOI： 10.1007/bf00291248

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  8 in total

1.  [Hepato-erythrocytic porphyria. A new type of porphyria].

Authors:  J Piñol Aguadé; C Herrero; J Almeida; A Castells Mas; J Ferrando; J De Asprer; A Palou; A Giménez
Journal:  Ann Dermatol Syphiligr (Paris)       Date:  1975

2.  Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene.

Authors:  V J Kidd; M S Golbus; R B Wallace; K Itakura; S L Woo
Journal:  N Engl J Med       Date:  1984-03-08       Impact factor: 91.245

3.  Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family.

Authors:  P Lazaro; R E de Salamanca; G H Elder; M L Villaseca; S Chinarro; G Jaqueti
Journal:  Br J Dermatol       Date:  1984-05       Impact factor: 9.302

4.  Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.

Authors:  H de Verneuil; C Beaumont; J C Deybach; Y Nordmann; Z Sfar; R Kastally
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

5.  Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda?

Authors:  G H Elder; S G Smith; C Herrero; M Lecha; J M Mascaro; A M Muniesa; D B Czarnecki; J Brenan; V Poulos; R E DE Salamanca
Journal:  Lancet       Date:  1981-04-25       Impact factor: 79.321

6.  Purification and properties of human erythrocyte uroporphyrinogen decarboxylase: immunological demonstration of the enzyme defect in porphyria cutanea tarda.

Authors:  S Sassa; H de Verneuil; K E Anderson; A Kappas
Journal:  Trans Assoc Am Physicians       Date:  1983

7.  Immunoreactive uroporphyrinogen decarboxylase in porphyria cutanea tarda.

Authors:  G H Elder; D M Sheppard; J A Tovey; A J Urquhart
Journal:  Lancet       Date:  1983-06-11       Impact factor: 79.321

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

Authors:  H de Verneuil; B Grandchamp; C Beaumont; C Picat; Y Nordmann
Journal:  Science       Date:  1986-11-07       Impact factor: 47.728
  8 in total
  6 in total

1.  Steady-state levels of uroporphyrinogen decarboxylase mRNA in lymphoblastoid cell lines from patients with familial porphyria cutanea tarda and their relatives.

Authors:  J L Hansen; M A Pryor; J B Kennedy; J P Kushner
Journal:  Am J Hum Genet       Date:  1988-06       Impact factor: 11.025

2.  Crystal structure of human uroporphyrinogen decarboxylase.

Authors:  F G Whitby; J D Phillips; J P Kushner; C P Hill
Journal:  EMBO J       Date:  1998-05-01       Impact factor: 11.598

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

Authors:  J R Garey; L M Harrison; K F Franklin; K M Metcalf; E S Radisky; J P Kushner
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

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

Authors:  M Mendez; L Sorkin; M V Rossetti; K H Astrin; A M del C Batlle; V E Parera; G Aizencang; R J Desnick
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

5.  A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.

Authors:  F Xiang; E W Almqvist; M Huq; A Lundin; M R Hayden; L Edström; M Anvret; Z Zhang
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

6.  Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

Authors:  M J Moran-Jimenez; C Ged; M Romana; R Enriquez De Salamanca; A Taïeb; G Topi; L D'Alessandro; H de Verneuil
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025
  6 in total

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