Further associations between mutations and polymorphisms in the ABCA4 gene: Clinical implication of allelic variants and their role as protector/risk factors

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 9, 2011, Pages 6206-6212

  Aguirre Lamban, Jana ^a   González Aguilera, Juan José ^b   Riveiro Alvarez, Rosa ^a   Cantalapiedra, Diego ^a   Avila Fernandez, Almudena ^a   Villaverde Montero, Cristina ^a   Corton, Marta ^a   Blanco Kelly, Fiona ^a   Garcia Sandoval, Blanca ^a   Ayuso, Carmen ^a  

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

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ABCA4 GENE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE CONTROL STUDY; CONTROLLED STUDY; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RETINA CONE ROD DYSTROPHY; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RISK FACTOR; SPAIN; STARGARDT DISEASE;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; CASE-CONTROL STUDIES; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; HUMANS; MACULAR DEGENERATION; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHOTORECEPTOR CELLS, VERTEBRATE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; RISK FACTORS; SEQUENCE HOMOLOGY;

EID: 80051519042     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-5743     Document Type: Article

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