Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 11, 2009, Pages 5375-5383

  Vijayasarathy, Camasamudram ^a   Ziccardi, Lucia ^a   Zeng, Yong ^a   Smaoui, Nizar ^b   Caruso, Rafael C ^b   Sieving, Paul A ^a,b  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; RETINOSCHISIN; RETINOSCHISIN 1; UNCLASSIFIED DRUG;

A WAVE; ANIMAL CELL; ARTICLE; B WAVE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE COURSE; DISEASE SEVERITY; ELECTRORETINOGRAM; EXON; FAMILY STUDY; FRAMESHIFT MUTATION; GENE CONSTRUCT; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE INSERTION; GENE SEQUENCE; GENETIC TRANSFECTION; HUMAN; MALE; MESSENGER RNA SYNTHESIS; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; NULL ALLELE; OPHTHALMOSCOPY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINOSCHISIS; RNA SPLICING; STOP CODON; WAVEFORM; X CHROMOSOME LINKED DISORDER;

ADULT; ANIMALS; ATROPHY; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; CROSS-SECTIONAL STUDIES; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ELECTRORETINOGRAPHY; EXONS; EYE PROTEINS; FRAMESHIFT MUTATION; HUMANS; INDEL MUTATION; INFANT; MACULA LUTEA; MALE; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; PEDIGREE; PHENOTYPE; RETINA; RETINOSCHISIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TOMOGRAPHY, OPTICAL COHERENCE; TRANSFECTION; VISUAL ACUITY;

EID: 77955688184     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-3839     Document Type: Article

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