Homozygous deletion related to alu repeats in RLBP1 causes retinitis punctata albescens

Investigative Ophthalmology and Visual Science

Volumn 47, Issue 11, 2006, Pages 4719-4724

  Humbert, Ghyslaine ^a   Delettre, Cécile ^a   Sénéchal, Audrey ^a   Bazalgette, Cécile ^b   Barakat, Abdelhamid ^c   Bazalgette, Christian ^b   Arnaud, Bernard ^b   Lenaers, Guy ^a   Hamel, Christian P ^a,b  

^a HÔPITAL SAINT ELOI   (France)

^b GUI DE CHAULIAC HOSPITAL   (France)

^c Institut Pasteur du Maroc   (Morocco)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; REPETITIVE DNA; RETINOL BINDING PROTEIN; RETINOL BINDING PROTEIN CRALBP; SPACER DNA; UNCLASSIFIED DRUG; 11 CIS RETINAL BINDING PROTEIN; 11-CIS-RETINAL-BINDING PROTEIN; CARRIER PROTEIN;

ABDH2 GENE; ADULT; ALLELE; ALU SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING SITE; CASE REPORT; CENTROMERE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; ELECTRORETINOGRAM; EXON; EYE FUNDUS ALBIPUNCTATUS; GENE; GENE DELETION; GENE SEQUENCE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INTRON; MALE; MOLECULAR CLONING; MOROCCO; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; ONSET AGE; OPHTHALMOSCOPY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PUNCTATA ALBESCENS; RLBP1 GENE; SEQUENCE ANALYSIS; SYMPTOM; TELOMERE; VISUAL FIELD; CONSANGUINITY; ELECTRORETINOGRAPHY; GENETICS; MOLECULAR GENETICS; MUTATION; RETINA DEGENERATION; RETINITIS;

ADULT; ALU ELEMENTS; BASE SEQUENCE; CARRIER PROTEINS; CONSANGUINITY; ELECTRORETINOGRAPHY; EXONS; GENE DELETION; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NIGHT BLINDNESS; RETINAL DEGENERATION; RETINITIS; VISUAL FIELDS;

EID: 34247145922     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.05-1488     Document Type: Article

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