Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis

Analytical Biochemistry

Volumn 395, Issue 1, 2009, Pages 41-48

  Ulbrichova Douderova, Dana ^a   Martasek, Pavel ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Acute intermittent porphyria; High resolution melting; Hydroxymethylbilane synthase; LightScanner; Porphobilinogen deaminase; Porphyria

Indexed keywords

COST EFFECTIVENESS; DNA; GENES; MELTING;

ACUTE INTERMITTENT PORPHYRIA; HIGH RESOLUTION; LIGHTSCANNER; PORPHOBILINOGEN; PORPHYRIA; SYNTHASES;

POLYMERASE CHAIN REACTION;

GENOMIC DNA; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; AMPLICON; ANALYTIC METHOD; ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DNA DETERMINATION; DNA POLYMORPHISM; GENE AMPLIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ALGORITHMS; AMPLIFIED FRAGMENT LENGTH POLYMORPHISM ANALYSIS; CZECH REPUBLIC; DNA PROBES; FEMALE; FLUORESCENT DYES; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; INTERCALATING AGENTS; MALE; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PORPHYRIA, ACUTE INTERMITTENT; PORPHYRIAS, HEPATIC; SENSITIVITY AND SPECIFICITY; SPECTROMETRY, FLUORESCENCE;

EID: 70349084907     PISSN: 00032697     EISSN: 10960309     Source Type: Journal    
DOI: 10.1016/j.ab.2009.07.050     Document Type: Article

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