Whole exome sequencing in thai patients with retinitis pigmentosa reveals novel mutations in six genes

Investigative Ophthalmology and Visual Science

Volumn 55, Issue 4, 2014, Pages 2259-2268

  Jinda, Worapoj ^a   Taylor, Todd D ^b   Suzuki, Yutaka ^c   Thongnoppakhun, Wanna ^a   Limwongse, Chanin ^a   Lertrit, Patcharee ^a   Suriyaphol, Prapat ^a   Trinavarat, Adisak ^a   Atchaneeyasakul, La Ongsri ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b Institute of Physical and Chemical Research   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

Genotype phenotype correlations; Mutation screening; Retinitis pigmentosa; Whole exome sequencing

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD SAMPLING; C8ORF37 GENE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CRB1 GENE; DYSTROPHY; EXOME; EYS GENE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROM1 GENE; RETINITIS PIGMENTOSA; RP2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; USH2A GENE; VISUAL IMPAIRMENT;

GENOTYPE-PHENOTYPE CORRELATIONS; MUTATION SCREENING; RETINITIS PIGMENTOSA; WHOLE EXOME SEQUENCING;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; EXOME; EYE PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PREVALENCE; RETINITIS PIGMENTOSA; THAILAND;

EID: 84898755864     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-13567     Document Type: Article

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