Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus

Archives of Dermatology

Volumn 138, Issue 7, 2002, Pages 957-960

  Ged, Cécile ^a   Ozalla, D ^b   Herrero, C ^b   Lecha, M ^b   Mendez, M ^a   De Verneuil, H ^a   Mascaro, J M ^b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; GLYCINE; LEUCINE; PHENYLALANINE; PORPHYRIN DERIVATIVE; UROPORPHYRINOGEN;

AMINO ACID SUBSTITUTION; AMNION FLUID; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOCHEMISTRY; CASE REPORT; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DISEASE SEVERITY; FAMILIAL DISEASE; FETUS (ANATOMY); GENE ISOLATION; GENE MUTATION; HEPATOERYTHROPOIETIC PORPHYRIA; HEREDITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; PORPHYRIA CUTANEA TARDA; PRENATAL CARE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RELATIVE; SPAIN; SYMPTOMATOLOGY; URINARY EXCRETION; UROD GENE;

EID: 0036288093     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.138.7.957     Document Type: Article

References (27)

1. Porphyrie hépatoérythrocytaire: Une nouvelle forme de porphyrie
2. Hepatoerythropoietic porphyria
3. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias
4. Hematologic aspects of the porphyrias
5. Uroporphyrinogen decarboxylase structural mutant (Gly281→Glu) in a case of porphyria
6. A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda
7. Uroporphyrinogen decarboxylase: A splice site mutation causes the deletion of exon 6 in multiple families with familial porphyria cutanea tarda
8. Identification of a new mutation responsible for hepatoerythropoietic porphyria
9. Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria
10. Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria
11. Uroporphyrinogen decarboxylase complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria
12. Five mutations in the uroporphyrinogen decarboxylase gene identified in families with familial porphyria cutanea tarda
13. Familial porphyria cutanea tarda: Characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles
14. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gel electrophoresis: Identification and characterization of 6 novel mutations associated with familial PCT
15. Prevalence of the 281 (Gly→Glu) mutation in hepatoerythropoietic porphyria and familial porphyria cutanea tarda
16. 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
17. Urine and faecal porphyrin profiles by reverse-phase high-performance liquid chromatography in the porphyrias
18. Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria
19. Crystal structure of human uroporphyrinogen decarboxylase
20. Prenatal diagnosis of congenital erythropoietic porphyria
21. Brown amniotic fluid in CEP
22. Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk
23. Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis
24. Asymptomatic erythrocyte disorder presenting as increased porphobilinogen deaminase and uroporphyrinogen decarboxylase
25. Erythrocyte uroporphyrinogen decarboxylase activity: Diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda
26. Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda
27. Hemochromatosis and other factors contributing to the pathogenesis of porphyria cutanea tarda