Two brothers with mild congenital erythropoietic porphyria due to a novel genotype

Archives of Dermatology

Volumn 141, Issue 12, 2005, Pages 1575-1579

  Berry, Ali A ^a   Desnick, Robert J ^b   Astrin, Kenneth H ^b   Shabbeer, Junard ^b   Lucky, Anne W ^c   Lim, Henry W ^a  

^a HENRY FORD HOSPITAL   (United States)

^b NEW YORK UNIVERSITY   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; EXON; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; TWINS;

ADOLESCENT; ALANINE; CHILD, PRESCHOOL; EXONS; GENETIC COUNSELING; GENOTYPE; GLYCINE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PORPHYRIA, ERYTHROPOIETIC; PORPHYRINS; PROMOTER REGIONS (GENETICS); SERINE; SIBLINGS; UROPORPHYRINOGEN III SYNTHETASE;

EID: 29144444078     PISSN: 0003987X     EISSN: 0003987X     Source Type: Journal    
DOI: 10.1001/archderm.141.12.1575     Document Type: Article

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