Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 3, 2007, Pages 985-990

  Valverde, Diana ^a   Riveiro Alvarez, Rosa ^b   Aguirre Lamban, Jana ^b   Baiget, Montserrat ^c   Carballo, Miguel ^d   Antiñolo, Guillermo ^e   Millán, José Maria ^f   Sandoval, Blanca Garcia ^a   Ayuso, Carmen ^b  

^a UNIVERSITY OF VIGO   (Spain)

^b Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^c HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^d HOSPITAL DE TERRASSA   (Spain)

^e HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^f HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ATP BINDING CASSETTE TRANSPORTER A4; UNCLASSIFIED DRUG; ABCA4 PROTEIN, HUMAN; MICROSATELLITE DNA;

ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA MICROARRAY; EXON; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; ADULT; ALLELE; DNA SEQUENCE; ETHNOLOGY; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; RETINA DEGENERATION; SPAIN;

ADULT; ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; EXONS; HUMANS; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHOTORECEPTORS, VERTEBRATE; POLYMERASE CHAIN REACTION; RETINAL DEGENERATION; SEQUENCE ANALYSIS, DNA; SPAIN; VARIATION (GENETICS);

EID: 34047254314     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-0307     Document Type: Article

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