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

Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1, -X2 and -X3...

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Bibliografische gegevens
Hoofdauteurs: Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Rösler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmüller, Janine, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Hahnen, Eric, Beck, Bodo B.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2013
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3790679/
https://ncbi.nlm.nih.gov/pubmed/24124559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0076414
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