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A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

BACKGROUND: Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (a...

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Detalles Bibliográficos
Autores principales: Manes, Gaël, Hebrard, Maxime, Bocquet, Béatrice, Meunier, Isabelle, Coustes-Chazalette, Delphine, Sénéchal, Audrey, Bolland-Augé, Anne, Zelenika, Diana, Hamel, Christian P
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102607/
https://www.ncbi.nlm.nih.gov/pubmed/21496248
http://dx.doi.org/10.1186/1471-2350-12-54