Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis

Ophthalmology

Volumn 119, Issue 12, 2012, Pages 2616-2621

  Avila Fernandez, Almudena ^a   Corton, Marta ^a   Nishiguchi, Koji M ^b   Muñoz Sanz, Nelida ^a   Benavides Mori, Belen ^a   Blanco Kelly, Fiona ^a   Riveiro Alvarez, Rosa ^a   Garcia Sandoval, Blanca ^a   Rivolta, Carlo ^b   Ayuso, Carmen ^a  

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

^b UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; DNA SEQUENCE; EARLY ONSET AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; ELECTRORETINOGRAPHY; EXOME; GENE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; RP1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY; VISUAL FIELD;

ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EUROPEAN CONTINENTAL ANCESTRY GROUP; EYE PROTEINS; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; SPAIN; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS; YOUNG ADULT;

EID: 84870702694     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2012.06.033     Document Type: Article

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