Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria

Molecular Genetics and Metabolism

Volumn 90, Issue 4, 2007, Pages 402-407

  Aurizi, Caterina ^a   Schneider Yin, Xiaoye ^b   Sorge, Fiammetta ^a   Macrì, Annelisa ^a   Minder, Elisabeth I ^b   Biolcati, Gianfranco ^a  

^a SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

^b Zentrallabor   (Switzerland)

Author keywords

Erythropoietic protoporphyria; Ferrochelatase; Mutation; Quantitative real time PCR; Single nucleotide polymorphism; Splice defect

Indexed keywords

ARGININE; CYSTEINE; FERROCHELATASE; GLYCINE; MESSENGER RNA; THREONINE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; ERYTHROPOIETIC PROTOPORPHYRIA; FEMALE; FRANCE; GENE DELETION; GENETIC HETEROGENEITY; HUMAN; ITALY; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RELATIVE;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILD; FEMALE; FERROCHELATASE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; ITALY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PROTOPORPHYRIA, ERYTHROPOIETIC;

EID: 33947713438     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.10.012     Document Type: Article

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