Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria

Blood Cells, Molecules, and Diseases

Volumn 38, Issue 3, 2007, Pages 242-246

  To Figueras, Jordi ^a   Badenas, Celia ^a   Mascaró, José Ma ^a   Madrigal, Irene ^a   Merino, Ana ^a   Bastida, Pilar ^b   Lecha, Mario ^a   Herrero, Carmen ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Congenital erythropoietic porphyria; G nther disease; Heme biosynthesis; Uroporphyrinogen III synthase

Indexed keywords

ARGININE; CYTOSINE; GLUTAMINE; METHIONINE; PORPHYRIN; PROLINE; THREONINE; UROPORPHYRINOGEN III SYNTHASE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DEFORMITY; DISEASE SEVERITY; ENZYME ACTIVITY; ERYTHROCYTE COUNT; ERYTHROPOIESIS; FEMALE; GENE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HEMOLYSIS; HOMOZYGOSITY; HUMAN; HYPERPIGMENTATION; INFANT; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SCAR FORMATION; SPAIN; SUNLIGHT PROTECTION; URINARY EXCRETION; URO S GENE;

ADULT; ERYTHROCYTE COUNT; FEMALE; GENOTYPE; HEME; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PORPHYRIA, ERYTHROPOIETIC; UROPORPHYRINOGEN III SYNTHETASE;

EID: 34047218803     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2006.12.001     Document Type: Article

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