Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease

Archives of Dermatology

Volumn 143, Issue 9, 2007, Pages 1125-1129

  Herrero, Carmen ^a   To Figueras, Jordi ^a,d   Badenas, Celia ^a   Méndez, Manuel ^b,c   Serrano, Patricia ^a   Enríquez Salamanca, Rafael ^b,c   Lecha, Mario ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PROTOPORPHYRIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; ERYTHROCYTE; ERYTHROPOIETIC PROTOPORPHYRIA; FECES ANALYSIS; FECH GENE; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LIVER DISEASE; MALE; MICROCYTIC ANEMIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; FERROCHELATASE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTOPORPHYRIA, ERYTHROPOIETIC; PROTOPORPHYRINS;

EID: 34548837512     PISSN: 0003987X     EISSN: 0003987X     Source Type: Journal    
DOI: 10.1001/archderm.143.9.1125     Document Type: Article

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