Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa

Gene

Volumn 528, Issue 2, 2013, Pages 178-182

  Chacon Camacho, Oscar F ^a   Jitskii, Serguei ^b   Buentello Volante, Beatriz ^a   Quevedo Martinez, Jonathan ^a   Zenteno, Juan C ^a,c  

^a Department of Genetics Research Unit   (Mexico)

^b Retinal Pathology Treatment Center Mexico with Vision Fund   (Mexico)

^c UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

Author keywords

Compound heterozygosity; Exome sequencing; RDH12; Retinal dystrophy; Retinitis pigmentosa

Indexed keywords

GENOMIC DNA; RETINOL DEHYDROGENASE; RETINOL DEHYDROGENASE 12; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; EXOME; HOMOZYGOSITY; HUMAN; HUMAN CELL; MEXICO; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OPHTHALMOLOGY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ΜL; A; ADENINE; ARRP; AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; BASE PAIRS; BAYESIAN ROBUST LINEAR MODEL WITH MAHALANOBIS DISTANCE CLASSIFIER; BP; BRLMM; C; COMPOUND HETEROZYGOSITY; CYTOSINE; DESOXIRRIBONUCLEIC ACID; DNA; ELECTRORETINOGRAM; ERG; EXOME SEQUENCING; FAG; FLUORESCEIN RETINAL ANGIOGRAPHY; GCOS; GENECHIP OPERATING SOFTWARE; I; ISOLEUCINE; L; LCA; LEBER CONGENITAL AMAUROSIS; LEUCINE; LIGATION MEDIATED-PCR; LM-PCR; LOGARITHM OF THE MINIMUM ANGLE OF RESOLUTION; LOGMAR; MAGNESIUM CHLORIDE; MGCL2; MICROLITER; NAD(P); NANOGRAM; NG; NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; OCT; OPTICAL COHERENCE TOMOGRAPHY; P; PCR; POLYMERASE CHAIN REACTION; POLYMORPHISM PHENOTYPING 2; POLYPHEN2; PROLINE; RDH12; RETINAL DYSTROPHY; RETINITIS PIGMENTOSA; RETINOL DEHYDROGENASE 12; RP; SIFT; SINGLE NUCLEOTIDE POLYMORPHISM; SNP; SORTING INTOLERANT FROM TOLERANT; T; THYMINE;

ALCOHOL OXIDOREDUCTASES; BASE SEQUENCE; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA;

EID: 84883050639     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.07.021     Document Type: Article

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