Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

PLoS ONE

Volumn 8, Issue 6, 2013, Pages

  Corton, Marta ^a   Nishiguchi, Koji M ^b   Avila Fernández, Almudena ^a   Nikopoulos, Konstantinos ^b   Riveiro Alvarez, Rosa ^a   Tatu, Sorina D ^a   Ayuso, Carmen ^a   Rivolta, Carlo ^b  

^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

ABCA4 GENE; ARTICLE; CHM GENE; CHOROIDEREMIA; CNGB3 GENE; COLOR BLINDNESS; COMPUTER MODEL; DNA DETERMINATION; DNA HYBRIDIZATION; ETHNIC GROUP; EXOME; FAMILY STUDY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NMNAT1 GENE; PEDIGREE; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; RETINITIS PIGMENTOSA; RP1 GENE; SEQUENCE ANALYSIS; SIMULATION; SPANISH; STARGARDT DISEASE; USH2A GENE; USHER SYNDROME; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; SPAIN;

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN; CHM PROTEIN, HUMAN; CNGB3 PROTEIN, HUMAN; CYCLIC NUCLEOTIDE GATED CHANNEL; EYE PROTEIN; NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE; NMNAT1 PROTEIN, HUMAN; RP1 PROTEIN, HUMAN; SCLEROPROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; USH2A PROTEIN, HUMAN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ATP-BINDING CASSETTE TRANSPORTERS; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; EXOME; EXTRACELLULAR MATRIX PROTEINS; EYE PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; NICOTINAMIDE-NUCLEOTIDE ADENYLYLTRANSFERASE; PEDIGREE; RETINAL DYSTROPHIES; RETINITIS PIGMENTOSA; SPAIN; USHER SYNDROMES;

EID: 84879042357     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0065574     Document Type: Article

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