Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations

Ophthalmic Genetics

Volumn 31, Issue 4, 2010, Pages 200-204

  Ksantini, Mohamed ^a   Sénéchal, Audrey ^a   Bocquet, Béatrice ^a   Meunier, Isabelle ^a   Brabet, Philippe ^a   Hamel, Christian P ^a  

^a UNIV MONTPELLIER   (France)

Author keywords

Gene screening; Retinitis pigmentosa; Visual cycle

Indexed keywords

CELLULAR RETINOL BINDING PROTEIN; G PROTEIN COUPLED RECEPTOR; INTERPHOTORECEPTOR RETINOID BINDING PROTEIN; PHOTOISOMERASE; RETINOID; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IN VITRO STUDY; MAJOR CLINICAL STUDY; PIGMENT EPITHELIUM; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; EYE PROTEINS; GENETIC TESTING; GENETIC VARIATION; HUMANS; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, G-PROTEIN-COUPLED; RETINAL DYSTROPHIES; RETINITIS PIGMENTOSA; RETINOL-BINDING PROTEINS; RETINOL-BINDING PROTEINS, CELLULAR; SEQUENCE ANALYSIS, DNA;

EID: 78649303784     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2010.512354     Document Type: Article

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