Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing

Molecular Vision

Volumn 19, Issue , 2013, Pages 654-664

  Dias, Miguel de Sousa ^a   Hernan, Imma ^a   Pascual, Beatriz ^a   Borràs, Emma ^a   Mañé, Begoña ^a   José Gamundi, Maria ^a   Carballo, Miguel ^a  

^a HOSPITAL DE TERRASSA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; RHO FACTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CA4 GENE; CDX GENE; CLINICAL ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DNA FLANKING REGION; DNA LIBRARY; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; IMPDH1 GENE; INTERMETHOD COMPARISON; LONG RANGE POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NR2E3 GENE; PAP1 GENE; PRIORITY JOURNAL; PROCESS DEVELOPMENT; PRPF3 GENE; PRPF31 GENE; PRPF8 GENE; PRPH2 GENE; RETINITIS PIGMENTOSA; RHO GENE; RP1 GENE; SEQUENCE ANALYSIS; TOPORS GENE;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE LIBRARY; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA;

EID: 84875457774     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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