Analysis of the ABCA4 genomic locus in Stargardt disease

Human Molecular Genetics

Volumn 23, Issue 25, 2014, Pages 6797-6806

  Zernant, Jana ^a   Xie, Yajing ^a   Ayuso, Carmen ^c,d   Riveiro Alvarez, Rosa ^c,d   Lopez Martinez, Miguel Angel ^c,d   Simonelli, Francesca ^e   Testa, Francesco ^e   Gorin, Michael B ^f   Strom, Samuel P ^f,g   Bertelsen, Mette ^h   Rosenberg, Thomas ^h   Boone, Philip M ⁱ   Yuan, Bo ⁱ   Ayyagari, Radha ^j   Nagy, Peter L ^b   Tsang, Stephen H ^a,b   Gouras, Peter ^a   Collison, Frederick T ^k   Lupski, James R ⁱ   Fishman, Gerald A ^k   Allikmets, Rando ^a,b   more..

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

^b Department of Medicine   (United States)

^c UAM)   (Spain)

^d Centro de Investigación Biomédica en Red de Cáncer CIBERONC University of Barcelona   (Spain)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

^f JULES STEIN EYE INSTITUTE   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

ⁱ BAYLOR COLLEGE OF MEDICINE   (United States)

^j UNIVERSITY OF CALIFORNIA   (United States)

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

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN;

ALLELE; BLACK PERSON; CASE CONTROL STUDY; CAUCASIAN; COMPARATIVE GENOMIC HYBRIDIZATION; ETHNOLOGY; EXON; FEMALE; GENE EXPRESSION; GENE LOCUS; GENETIC VARIATION; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; HUMAN; INTRON; MACULAR DEGENERATION; MALE; MUTATION; PATHOLOGY; PEDIGREE; RECESSIVE GENE;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; CASE-CONTROL STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE EXPRESSION; GENES, RECESSIVE; GENETIC LOCI; GENETIC VARIATION; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INTRONS; MACULAR DEGENERATION; MALE; MUTATION; PEDIGREE;

EID: 84920089952     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu396     Document Type: Article

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