Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 5, 2010, Pages 2615-2619

  Aguirre Lamban, Jana ^a,b   Riveiro Alvarez, Rosa ^a,b   Garcia Hoyos, Maria ^a,b   Cantalapiedra, Diego ^a,b   Avila Fernandez, Almudena ^a,b   Villaverde Montero, Cristina ^a,b   Trujillo Tiebas, Maria Jose ^a,b   Ramos, Carmen ^a,b   Ayuso, Carmen ^a,b  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; HISTIDINE; TRYPTOPHAN; TYROSINE; ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN;

ABCA4 GENE; ARTICLE; AUTOSOMAL RECESSIVE CONE ROD DYSTROPHY; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; GENE; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HIGH RESOLUTION MELTING ANALYSIS; HOMOZYGOTE; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MUTANT; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SENSITIVITY AND SPECIFICITY; SPAIN; STARGARDT DISEASE; WILD TYPE; COMPARATIVE STUDY; DNA MICROARRAY; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; NUCLEOTIDE SEQUENCE; PROTEIN DENATURATION; RETINA DEGENERATION; RETINA MACULA DEGENERATION; TRANSITION TEMPERATURE;

ATP-BINDING CASSETTE TRANSPORTERS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; GENOTYPE; MACULAR DEGENERATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PROTEIN DENATURATION; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; SENSITIVITY AND SPECIFICITY; TRANSITION TEMPERATURE;

EID: 77952484078     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-4518     Document Type: Article

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