Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis

Prenatal Diagnosis

Volumn 16, Issue 1, 1996, Pages 83-86

  Ged, C ^a,b   Moreau Gaudry, F ^a   Taine, L ^a   Hombrados, I ^a   Calvas, P ^c   Colombies, P ^c   De Verneuil, H ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b HÔPITAL PELLEGRIN   (France)

^c CHU PURPAN   (France)

Author keywords

Congenital erythropoietic porphyria; DNA analysis; Mutation

Indexed keywords

DNA; UROPORPHYRIN;

AMNIOTIC FLUID CELL; ARTICLE; CASE REPORT; DNA STRUCTURE; ERYTHROPOIETIC PROTOPORPHYRIA; FETUS; HUMAN; MUTANT; PORPHYRIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

AMNIOTIC FLUID; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL DISEASES; HOMOZYGOTE; HUMANS; MUTATION; PORPHYRIA, ERYTHROPOIETIC; PREGNANCY; PRENATAL DIAGNOSIS; UROPORPHYRINOGEN III SYNTHETASE; UROPORPHYRINS;

EID: 0030050871     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199601)16:1<83::AID-PD812>3.0.CO;2-4     Document Type: Article

References (14)

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