Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing

PLoS ONE

Volumn 6, Issue 12, 2011, Pages

  González del Pozo, María ^a,b   Borrego, Salud ^a,b   Barragán, Isabel ^a,b   Pieras, Juan I ^a,b   Santoyo, Javier ^b,c,d   Matamala, Nerea ^a,c   Naranjo, Belén ^a   Dopazo, Joaquín ^b,c,d,e   Antiñolo, Guillermo ^a,b,c  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c Medical Genome Project   (Spain)

^d CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^e Functional Genomics Node (INB)   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; CERKL GENE; CNGA1 GENE; COHORT ANALYSIS; CONTROLLED STUDY; CRB1 GENE; EXON; EYS GENE; GENE; GENETIC VARIABILITY; HIGH THROUGHPUT SEQUENCING; HUMAN; IDH3B GENE; INTRON; LRAT GENE; MAJOR CLINICAL STUDY; MFRTK GENE; MICROARRAY ANALYSIS; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NR2E3 GENE; PDE6B GENE; POLYMERASE CHAIN REACTION; PRCD GENE; PREDICTION; PROM1 GENE; RETINITIS PIGMENTOSA; RGR GENE; RHO GENE; RLBP1 GENE; RPE65 GENE; SEQUENCE ANALYSIS; SPAIN; TULP1 GENE; VALIDATION PROCESS;

ALLELES; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC VARIATION; GENOME; HISPANIC AMERICANS; HUMANS; INTRONS; LANGUAGE; MUTATION; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; RETINITIS PIGMENTOSA; UNITED STATES;

EID: 82555175936     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0027894     Document Type: Article

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