Erythropoietic protoporphyria: Four novel frameshift mutations in the ferrochelatase gene

Journal of Investigative Dermatology

Volumn 109, Issue 5, 1997, Pages 688-691

  Wang, Xiuhua ^a   Piomelli, Sergio ^a   Peacocke, Monica ^a   Christiano, Angela M ^a   Poh Fitzpatrick, Maureen B ^a  

^a Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   (United States)

Author keywords

Nonsense mediated mRNA decay; Premature termination codons

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; ERYTHROPOIETIC PROTOPORPHYRIA; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENETIC LINKAGE; HUMAN; IRON CHELATION; MALE; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; SCHOOL CHILD; STOP CODON;

EID: 0030725676     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12338217     Document Type: Article

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