Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy

BioMed Research International

Volumn 2015, Issue , 2015, Pages

  El Shamieh, Said ^a,b,c   Boulanger Scemama, Elise ^a,b,c   Lancelot, Marie Elise ^a,b,c   Antonio, Aline ^a,b,c   Démontant, Vanessa ^a,b,c   Condroyer, Christel ^a,b,c   Letexier, Mélanie ^d   Saraiva, Jean Paul ^d   Mohand Saïd, Saddek ^a,b,c,e   Sahel, José Alain ^{a,b,c,e,f,g,h}   Audo, Isabelle ^a,b,c,e,h   Zeitz, Christina ^a,b,c  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c CNRS   (France)

^d Parc Scientifique de Luminy   (France)

^e CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

^f FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^g Académie des Sciences Institut de France Paris   (France)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PEPTIDES AND PROTEINS; RETINITIS PIGMENTOSA 1 PROTEIN; UNCLASSIFIED DRUG; EYE PROTEIN; RP1 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE ROD CONE DYSTROPHY; CLINICAL ARTICLE; EYE DISEASE; EYE EXAMINATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INHERITANCE; MALE; NEXT GENERATION SEQUENCING; PHENOTYPE; PREVALENCE; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; RETINITIS PIGMENTOSA;

ADULT; EYE PROTEINS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; RETINITIS PIGMENTOSA;

EID: 84921341459     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2015/485624     Document Type: Article

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