Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria

Clinical Genetics

Volumn 71, Issue 1, 2007, Pages 84-88

  Di Pierro, E ^a   Brancaleoni, V ^b   Moriondo, V ^a   Besana, V ^a   Cappellini, Maria D ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Erythropoietic protoporphyria; Ferrochelatase gene; Heme; Intragenic deletion; Low expressed allele; Promoter mutation

Indexed keywords

DNA; FERROCHELATASE; RNA;

ARTICLE; BASE PAIRING; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CARRIER; DNA DETERMINATION; ERYTHROPOIETIC PROTOPORPHYRIA; EXON; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEGREGATION; GENETIC POLYMORPHISM; HOMOZYGOSITY; HUMAN; ITALY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RNA ANALYSIS;

ADOLESCENT; ADULT; BASE SEQUENCE; DNA PRIMERS; FEMALE; FERROCHELATASE; GENE COMPONENTS; GENES, DOMINANT; HUMANS; ITALY; MALE; MIDDLE AGED; POINT MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); PROTOPORPHYRIA, ERYTHROPOIETIC; SEQUENCE DELETION;

EID: 33845536988     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00733.x     Document Type: Article

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