Screening Genes of the Retinoid Metabolism: Novel LRAT Mutation in Leber Congenital Amaurosis

American Journal of Ophthalmology

Volumn 142, Issue 4, 2006, Pages 702-704

  Sénéchal, Audrey ^a   Humbert, Ghyslaine ^a   Surget, Marie Odile ^a   Bazalgette, Cécile ^b   Bazalgette, Christian ^b   Arnaud, Bernard ^b   Arndt, Carl ^b   Laurent, Eric ^b   Brabet, Philippe ^a   Hamel, Christian P ^a,b  

^a HÔPITAL SAINT ELOI   (France)

^b GUI DE CHAULIAC HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LECITHIN RETINOL ACYLTRANSFERASE; RETINOID; RETINOL DEHYDROGENASE;

AGED; ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EVALUATION; EXON; EYE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LEBER CONGENITAL AMAUROSIS; LIGHT; MAJOR CLINICAL STUDY; METABOLISM; NIGHT BLINDNESS; PATHOGENESIS; PERINATAL PERIOD; PHENOTYPE; PIGMENT EPITHELIUM; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; STOP CODON; VISION;

ACYLTRANSFERASES; ALCOHOL OXIDOREDUCTASES; BLINDNESS; CARRIER PROTEINS; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FRAMESHIFT MUTATION; GENETIC SCREENING; HUMANS; MALE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; RETINOIDS; SEQUENCE ANALYSIS, DNA;

EID: 33748963448     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2006.04.057     Document Type: Article

References (7)

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