Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: Identification of 21 novel variants

British Journal of Ophthalmology

Volumn 93, Issue 5, 2009, Pages 614-621

  Aguirre Lamban, J ^a,b   Riveiro Alvarez, R ^a,b   Maia Lopes, S ^c   Cantaiapiedra, D ^a,b   Vallespin, E ^a,b   Avila Fernandez, A ^a,b   Villaverde Montero, C ^a,b   Trujillo Tiebas, M J ^a,b   Ramos, C ^a,b   Ayuso, C ^a,b  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSITY OF COIMBRA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; UNCLASSIFIED DRUG; ABCA4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; MICROARRAY ANALYSIS; MOLECULAR PROBE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; RETINA CONE; RETINA CONE ROD DYSTROPHY; RETINA DYSTROPHY; RETINA ROD; RETINITIS PIGMENTOSA; SENSITIVITY AND SPECIFICITY; SPAIN; STARGARDT DISEASE; DNA MICROARRAY; EVALUATION; EYE DISEASE; FEMALE; GENETICS; MALE; METHODOLOGY; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RETINA DEGENERATION; RETINA MACULA DEGENERATION;

ADOLESCENT; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; EYE DISEASES, HEREDITARY; FEMALE; GENETIC VARIATION; GENOTYPE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PHENOTYPE; RETINAL DEGENERATION; SENSITIVITY AND SPECIFICITY; YOUNG ADULT;

EID: 66149086607     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2008.145193     Document Type: Article

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