Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT

Human Mutation

Volumn 14, Issue 3, 1999, Pages 222-232

  Christiansen, Lene ^a   Ged, C ^b   Hombrados, I ^b   Brons Poulsen J ^a   Fontanellas, A ^b   De Verneuil, H ^b   Horder M ^a   Petersen, N E ^a  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b NONE

Author keywords

Electrophoresis methods; Expression analysis; Genetic screening methods; Mutation analysis; Porphyria cutanea tarda genetics; UROD; Uroporphyrinogen decarboxylase

Indexed keywords

UROPORPHYRINOGEN DECARBOXYLASE;

ARTICLE; CASE REPORT; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; MISSENSE MUTATION; PORPHYRIA; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL;

ALLELES; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ENZYME STABILITY; EXONS; GENE EXPRESSION; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PORPHYRIA CUTANEA TARDA; RECOMBINANT PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS, DNA; TEMPERATURE; UROPORPHYRINOGEN DECARBOXYLASE;

EID: 0032819024     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:3<222::AID-HUMU5>3.0.CO;2-V     Document Type: Article

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