Structural and genetic assessment of the ABCA4-associated optical gap phenotype

Investigative ophthalmology & visual science

Volumn 55, Issue 11, 2014, Pages 7217-7226

  Nõupuu, Kalev ^a   Lee, Winston ^b   Zernant, Jana ^a   Tsang, Stephen H ^b   Allikmets, Rando ^a  

^a Columbia University ^*  (United States)

^b Department of Medicine   (United States)

Author keywords

ABCA4; optical coherence tomography; optical gap; p.G1961E mutation; Stargardt disease

Indexed keywords

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN; DNA;

ADOLESCENT; ADULT; CHILD; ELECTRORETINOGRAPHY; FEMALE; FOLLOW UP; GENETICS; HUMAN; MACULAR DEGENERATION; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; RETINA; RETROSPECTIVE STUDY; YOUNG ADULT;

ADOLESCENT; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; DNA; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FOLLOW-UP STUDIES; HUMANS; MACULAR DEGENERATION; MALE; MUTATION; PHENOTYPE; RETINA; RETROSPECTIVE STUDIES; TOMOGRAPHY, OPTICAL COHERENCE; YOUNG ADULT;

EID: 84922294155     PISSN: None     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-14674     Document Type: Article

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