Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients

Human Mutation

Volumn 35, Issue 10, 2014, Pages 1187-1194

  Zernant, Jana ^a   Collison, Frederick T ^b   Lee, Winston ^a   Fishman, Gerald A ^b,c   Noupuu, Kalev ^a   Yuan, Bo ^d   Cai, Carolyn ^a   Lupski, James R ^d   Yannuzzi, Lawrence A ^e   Tsang, Stephen H ^a,f   Allikmets, Rando ^a,f  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b Pangere Center for Hereditary Retinal Diseases   (United States)

^c UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e VITREOUS RETINA MACULA CONSULTANTS OF NEW YORK   (United States)

^f NewYork Presbyterian Hospital   (United States)

Author keywords

ABCA4; African American; Allelic heterogeneity; Next generation sequencing; Stargardt disease

Indexed keywords

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN;

ADULT; AFRICAN AMERICAN; CAUCASIAN; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; ETHNOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION; UNITED STATES;

ADULT; AFRICAN AMERICANS; ATP-BINDING CASSETTE TRANSPORTERS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION; UNITED STATES;

EID: 84908668360     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22626     Document Type: Article

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