ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

European Journal of Human Genetics

Volumn 16, Issue 7, 2008, Pages 812-819

  Kitiratschky, Veronique B D ^a   Grau, Tanja ^a   Bernd, Antje ^b   Zrenner, Eberhart ^b   Jägle, Herbert ^b   Renner, Agnes B ^c   Kellner, Ulrich ^c,d   Rudolph, Günther ^e   Jacobson, Samuel G ^f   Cideciyan, Artur V ^f   Schaich, Simone ^a   Kohl, Susanne ^a   Wissinger, Bernd ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c FREIE UNIVERSITÄT BERLIN   (Germany)

^d RetinaScience   (Germany)

^e UNIVERSITY OF MUNICH   (Germany)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CONTROLLED STUDY; DNA MICROARRAY; DNA SEQUENCE; EXON; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTANT; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; SEROPREVALENCE;

ADOLESCENT; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CHILD, PRESCHOOL; CHROMOSOME SEGREGATION; FAMILY; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA;

EID: 45749149163     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.23     Document Type: Article

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