Molecular characterization of erythropoietic protoporphyria in South Africa

British Journal of Dermatology

Volumn 159, Issue 1, 2008, Pages 182-191

  Parker, M ^a   Corrigall, A V ^a   Hift, R J ^a,c   Meissner, P N ^a,b  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

^c UNIVERSITY OF KWAZULU NATAL   (South Africa)

Author keywords

Erythropoietic protoporphyria; Ferrochelatase; Founder effect; Mutations; Photodermatology; Porphyria

Indexed keywords

FERROCHELATASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; DNA POLYMORPHISM; ERYTHROPOIETIC PROTOPORPHYRIA; EXON; FEMALE; FERROCHELATASE GENE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE SEQUENCE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MOLECULAR BIOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTH AFRICA;

ADOLESCENT; ADULT; ALLELES; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FERROCHELATASE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMORPHISM, GENETIC; PROTOPORPHYRIA, ERYTHROPOIETIC; SOUTH AFRICA;

EID: 45749102013     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08580.x     Document Type: Article

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