Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Ortube, Maria C ^a   Strom, Samuel P ^b   Nelson, Stanley F ^b   Nusinowitz, Steven ^a   Martinez, Ariadna ^a   Gorin, Michael B ^a,b  

^a JULES STEIN EYE INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

ABCA4 retinopathy; Consanguinity; Homozygosity; Pediatric

Indexed keywords

LIPOFUSCIN;

ABCA4 GENE; ARTICLE; AUTOFLUORESCENCE IMAGING; BLINDNESS; BLISTER; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; CONSANGUINITY; DISEASE COURSE; DNA DETERMINATION; DRUSEN; ELECTRORETINOGRAPHY; EXOME; EYE EXAMINATION; EYE FUNDUS; EYE PHOTOGRAPHY; FAMILY HISTORY; FEMALE; FEVER; GASTROINTESTINAL DISEASE; GENE; GENE SEQUENCE; GENETIC SCREENING; HEADACHE; HISPANIC; HOMOZYGOSITY; HUMAN; HYPERMETROPIA; MISSENSE MUTATION; NAUSEA AND VOMITING; NIGHT BLINDNESS; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; PHENOTYPE; PIGMENT EPITHELIUM; RETINA CONE; RETINA DYSTROPHY; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA MACULA DEGENERATION; RETINA ROD; SCHOOL CHILD; SCOTOMA; VISUAL ACUITY; VISUAL IMPAIRMENT;

ATP-BINDING CASSETTE TRANSPORTERS; CHILD; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; RETINAL DYSTROPHIES;

EID: 84892473594     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-11     Document Type: Article

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