A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

PLoS ONE

Volumn 8, Issue 10, 2013, Pages

  Hauke, Jan ^a,b   Schild, Andrea ^a   Neugebauer, Antje ^a   Lappa, Alexandra ^a   Fricke, Julia ^a   Fauser, Sascha ^a   Rösler, Stefanie ^a   Pannes, Andrea ^a   Zarrinnam, Dirk ^c   Altmüller, Janine ^d   Motameny, Susanne ^d   Nürnberg, Gudrun ^d   Nürnberg, Peter ^a,d   Hahnen, Eric ^a,b   Beck, Bodo B ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c Medical Practice Dr Zarrinnam   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; AGED; ARTICLE; AUTOFLUORESCENCE IMAGING; CACNA1F GENE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; EXON; EYE PHOTOGRAPHY; FEMALE; GENE; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GERMANY; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MALE; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRESCHOOL CHILD; RETINA CONE ROD DYSTROPHY; RETINA DYSTROPHY; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; CALCIUM CHANNELS, L-TYPE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENETIC LINKAGE; HUMANS; MALE; MIDDLE AGED; MUTATION; OPHTHALMOSCOPES; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE; YOUNG ADULT;

EID: 84885024407     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0076414     Document Type: Article

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