Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: Retrospective analysis in 420 Spanish families

Ophthalmology

Volumn 120, Issue 11, 2013, Pages 2332-2337

  Riveiro Alvarez, Rosa ^a,b   Lopez Martinez, Miguel Angel ^a,b   Zernant, Jana ^c   Aguirre Lamban, Jana ^a,b   Cantalapiedra, Diego ^a,b   Avila Fernandez, Almudena ^a,b   Gimenez, Ascension ^a,b   Lopez Molina, Maria Isabel ^b,d   Garcia Sandoval, Blanca ^b,d   Blanco Kelly, Fiona ^a,b   Corton, Marta ^a,b   Tatu, Sorina ^a,b   Fernandez San Jose, Patricia ^a,b   Trujillo Tiebas, Maria Jose ^a,b   Ramos, Carmen ^a,b   Allikmets, Rando ^c,e   Ayuso, Carmen ^a,b  

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

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c Columbia University ^*  (United States)

^d Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^e Department of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; UNCLASSIFIED DRUG;

ABCA4 GENE; ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; ELECTRORETINOGRAPHY; GENE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOTE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; ONSET AGE; OUTCOME ASSESSMENT; PERIPHERAL VISION; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE ROD DYSTROPHY; RETINA DYSTROPHY; RETINA PIGMENT DEGENERATION; RETINITIS PIGMENTOSA; SCHOOL CHILD; SPAIN; STARGARDT DISEASE; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; ELECTRORETINOGRAPHY; FLUORESCEIN ANGIOGRAPHY; GENETIC ASSOCIATION STUDIES; GENOTYPING TECHNIQUES; HUMANS; MACULAR DEGENERATION; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; RETINITIS PIGMENTOSA; RETROSPECTIVE STUDIES; SPAIN; YOUNG ADULT;

EID: 84887187194     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2013.04.002     Document Type: Article

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