Congenital erythropoietic porphyria: Mutation update and correlations between genotype and phenotype

Cellular and Molecular Biology

Volumn 55, Issue 1, 2009, Pages 53-60

  Ged, Cécile ^a,b   Moreau Gaudry, F ^a,b   Richard, E ^a,b   Robert Richard, E ^a   De Verneuil, H ^a,b  

^a INSERM   (France)

^b UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

Molecular diagnosis; Porphyria; UROS gene

Indexed keywords

UROPORPHYRINOGEN III SYNTHASE;

ALLELE; BONE MARROW TRANSPLANTATION; CLINICAL EVALUATION; CLINICAL FEATURE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DISEASE SEVERITY; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MUTATIONAL ANALYSIS; PRENATAL DIAGNOSIS; REVIEW;

EID: 67449156368     PISSN: 01455680     EISSN: 1165158X     Source Type: Journal    
DOI: 10.1170/T838     Document Type: Review

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