IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies

BioMed Research International

Volumn 2013, Issue , 2013, Pages

  Schorderet, Daniel F ^a,b,c   Iouranova, Alexandra ^c   Favez, Tatiana ^a   Tiab, Leila ^a   Escher, Pascal ^a,b  

^a Institute for Research in Ophthalmology IRO   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c EPFL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ABCA4 GENE; ARTICLE; CLINICAL ARTICLE; CNGB1 GENE; CONTROLLED STUDY; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GUCY2D GENE; HIGH THROUGHPUT SEQUENCING; HUMAN; INHERITED RETINAL DYSTROPHY; MOLECULAR DIAGNOSIS; PROM1 GENE; PRPF31 GENE; PRPF8 GENE; PRPH2 GENE; PYROSEQUENCING; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RHO GENE; RP2 GENE; SOLUTION BASED TARGETED EXON CAPTURE ASSAY; TULP1 GENE; CLINICAL TRIAL; EXON; FEMALE; GENETICS; MALE; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROCEDURES; METHODOLOGY;

DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA;

EID: 84874589833     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2013/198089     Document Type: Article

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