Molecular diagnosis of putative Stargardt disease probands by exome sequencing

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Strom, Samuel P ^a   Gao, Yong Qing ^a   Martinez, Ariadna ^a   Ortube, Carolina ^a   Chen, Zugen ^b   Nelson, Stanley F ^b   Nusinowitz, Steven ^a   Farber, Deborah B ^a   Gorin, Michael B ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

ABCA4; Exome; Macular Degeneration; Molecular Diagnostics; Mutation Screening; PRPH2; Stargardt Disease

Indexed keywords

ABCA4 PROTEIN; CRB1 PROTEIN; DIDEOXYNUCLEOTIDE; ELOVL PROTEIN; MEMBRANE PROTEIN; PRPH2 PROTEIN; RDS PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; EXOME; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MALE; MOLECULAR DIAGNOSIS; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; STARGARDT DISEASE; WHOLE EXOME SEQUENCING;

ACETYLTRANSFERASES; ADOLESCENT; ADULT; BIOLOGICAL MARKERS; EXOME; EYE PROTEINS; FEMALE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MACULAR DEGENERATION; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; RETINAL DYSTROPHIES; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84864498831     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-67     Document Type: Article

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