Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.

Fan, C; Duhagon, M A; Oberti, C; Chen, S; Hiroi, Y; Komuro, I; Duhagon, P I; Canessa, R; Wang, Q

Fan, C; Duhagon, M A; Oberti, C; Chen, S; Hiroi, Y; Komuro, I; Duhagon, P I; Canessa, R; Wang, Q.

Affiliation

Fan C; Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.

J Med Genet ; 40(3): e29, 2003 Mar.

Article in En | MEDLINE | ID: mdl-12624158

Subject(s)

Abnormalities, Multiple/genetics; Heart Defects, Congenital/pathology; Limb Deformities, Congenital/pathology; T-Box Domain Proteins/genetics; 3T3 Cells; Abnormalities, Multiple/pathology; Active Transport, Cell Nucleus/genetics; Animals; Atrial Natriuretic Factor/genetics; Base Sequence; Cell Line; Cell Nucleus/metabolism; Codon, Nonsense; DNA/chemistry; DNA/genetics; DNA/metabolism; DNA Mutational Analysis; Family Health; Female; Humans; Luciferases/genetics; Luciferases/metabolism; Male; Mice; Molecular Sequence Data; Mutation; Pedigree; Promoter Regions, Genetic; Protein Binding/genetics; Recombinant Fusion Proteins/genetics; Recombinant Fusion Proteins/metabolism; Sequence Deletion; Syndrome; T-Box Domain Proteins/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Limb Deformities, Congenital / T-Box Domain Proteins / Heart Defects, Congenital Limits: Animals / Female / Humans / Male Language: En Journal: J Med Genet Year: 2003 Document type: Article Affiliation country: United States Country of publication: United kingdom

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