Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria

Clinical Genetics

Volumn 64, Issue 2, 2003, Pages 122-130

  Wiman, A ^a   Harper, P ^a   Floderus, Ylva ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

DNA mutational analysis; Haem biosynthesis; PPOX mutations; Protoporphyrinogen oxidase; Variegate porphyria

Indexed keywords

ADENINE; CYTOSINE; GUANINE; HEME; OXIDOREDUCTASE; PORPHYRIN; PROTOPORPHYRINOGEN OXIDASE; TYROSINE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BIOCHEMISTRY; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; ELECTROPHORESIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FAMILY STUDY; FEMALE; FLUORESCENCE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC TRAIT; GENETICS; HAPLOTYPE; HEME SYNTHESIS; HEPATIC PORPHYRIA; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHOTOSENSITIVITY; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPECTROPHOTOMETRY; SWEDEN;

DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS; FLAVOPROTEINS; FLUORESCENCE; HAPLOTYPES; HUMANS; MITOCHONDRIAL PROTEINS; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PORPHYRIAS, HEPATIC; PORPHYRINS; PROTOPORPHYRINOGEN OXIDASE; SEQUENCE ANALYSIS, DNA; SPECTROPHOTOMETRY; SWEDEN;

INSERTION SEQUENCES;

EID: 0042632609     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00116.x     Document Type: Review

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