High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.

Carrillo, J; Martínez, P; Solera, J; Moratilla, C; González, A; Manguán-García, C; Aymerich, M; Canal, L; Del Campo, M; Dapena, J L; Escoda, L; García-Sagredo, J M; Martín-Sala, S; Rives, S; Sevilla, J; Sastre, L; Perona, R

Carrillo, J; Martínez, P; Solera, J; Moratilla, C; González, A; Manguán-García, C; Aymerich, M; Canal, L; Del Campo, M; Dapena, J L; Escoda, L; García-Sagredo, J M; Martín-Sala, S; Rives, S; Sevilla, J; Sastre, L; Perona, R.

Affiliation

Carrillo J; Instituto de Investigaciones Biomédicas de Madrid CSIC/UAM, IDIPaz (Biomarkers and Experimental Therapeutics Group), C/ Arturo Duperier, 4, 28029 Madrid and CIBER de Enfermedades Raras, Valencia, Spain.

Blood Cells Mol Dis ; 49(3-4): 140-6, 2012.

Article in En | MEDLINE | ID: mdl-22664374

Subject(s)

Cell Cycle Proteins/genetics; Dyskeratosis Congenita/genetics; Nuclear Proteins/genetics; Sequence Analysis, DNA/methods; Telomerase/genetics; Adolescent; Adult; Bone Marrow/metabolism; Bone Marrow/pathology; Child; Child, Preschool; Dyskeratosis Congenita/diagnosis; Dyskeratosis Congenita/pathology; Female; Humans; Male; Molecular Sequence Data; Mutation; Nucleic Acid Denaturation; Polymerase Chain Reaction; Telomere/pathology; White People

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Sequence Analysis, DNA / Cell Cycle Proteins / Telomerase / Dyskeratosis Congenita Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Blood Cells Mol Dis Year: 2012 Document type: Article

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