Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria

Journal of Human Genetics

Volumn 48, Issue 2, 2003, Pages 70-76

  Wiman, Åsa ^a   Floderus, Ylva ^a   Harper, Pauline ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

DNA mutational analysis; Erythropoietic protoporphyria; FECH mutations; Ferrochelatase; Heme biosynthesis

Indexed keywords

FERROCHELATASE; GENE PRODUCT;

ALLELISM; ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DENATURING GRADIENT GEL ELECTROPHORESIS; ERYTHROID CELL; GENE MUTATION; HAPLOTYPE; HUMAN; INHERITANCE; INTRON; LIVER DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTOSENSITIVITY; SEQUENCE ANALYSIS; SWEDEN;

FEMALE; HAPLOTYPES; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PORPHYRIA, HEPATOERYTHROPOIETIC; PREVALENCE; RNA SPLICE SITES; RNA, MESSENGER; SWEDEN;

EID: 0037223781     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380300009     Document Type: Article

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