Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: Identification of two new mutations

Annals of Clinical and Laboratory Science

Volumn 32, Issue 2, 2002, Pages 107-113

  Donnelly, James G ^a   Detombe, Sarah ^a   Hindmarsh, J Thomas ^a  

^a UNIVERSITY OF OTTAWA   (Canada)

Author keywords

Mutation; Protoporphyrinogen oxidase; Stool porphyrins; Urine porphyrins; Variegate porphyria

Indexed keywords

PORPHYRIN; PROTOPORPHYRINOGEN OXIDASE;

ADULT; ARTICLE; CASE REPORT; DENATURING GRADIENT GEL ELECTROPHORESIS; EXON; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; POINT MUTATION; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; ELECTROPHORESIS; EXONS; FECES; FEMALE; FLAVOPROTEINS; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; NUCLEIC ACID DENATURATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORPHYRIAS, HEPATIC; PORPHYRINS; PROTOPORPHYRINOGEN OXIDASE; SIBLINGS;

EID: 0036241791     PISSN: 00917370     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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