Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

Papon, J F; Perrault, I; Coste, A; Louis, B; Gérard, X; Hanein, S; Fares-Taie, L; Gerber, S; Defoort-Dhellemmes, S; Vojtek, A M; Kaplan, J; Rozet, J M; Escudier, E

Papon, J F; Perrault, I; Coste, A; Louis, B; Gérard, X; Hanein, S; Fares-Taie, L; Gerber, S; Defoort-Dhellemmes, S; Vojtek, A M; Kaplan, J; Rozet, J M; Escudier, E.

Affiliation

Papon JF; INSERM, Unit U955, Creteil, France.

J Med Genet ; 47(12): 829-34, 2010 Dec.

Article in En | MEDLINE | ID: mdl-20805370

Subject(s)

Cilia/pathology; Leber Congenital Amaurosis/genetics; Leber Congenital Amaurosis/pathology; Mutation/genetics; Respiratory System Abnormalities/genetics; Adolescent; Adult; Antigens, Neoplasm/genetics; Antigens, Neoplasm/metabolism; Cell Cycle Proteins; Child; Cilia/ultrastructure; Cytoskeletal Proteins; Gene Expression Profiling; Gene Expression Regulation; Humans; Male; Microscopy, Video; Neoplasm Proteins/genetics; Neoplasm Proteins/metabolism; Phenotype; RNA, Messenger/genetics; RNA, Messenger/metabolism; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Respiratory System Abnormalities / Cilia / Leber Congenital Amaurosis / Mutation Limits: Adolescent / Adult / Child / Humans / Male Language: En Journal: J Med Genet Year: 2010 Type: Article Affiliation country: France

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