Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. Issue 6 (1st June 2004)

• Record Type: Journal Article
• Authors: Giorda, R; Cerritello, A; Bonaglia, M C; Bova, S; Lanzi, G; Repetti, E; Giglio, S; Baschirotto, C; Pramparo, T; Avolio, L; Bragheri, R; Maraschio, P; Zuffardi, O
• Is Part Of: Journal of medical genetics. Volume 41:Issue 6(2004)
• Page Start: e71
• Page End: e71
• Publication Date: 2004-06-01
• Subjects: BPAG1 -- dystonin -- tracheo-oesophageal atresia -- translocation breakpoint; ABD, actin-binding domain -- BP, bullous pemphigoid -- CC, coiled-coil -- DMEM, Dulbecco's modified Eagle medium -- EA, oesophageal atresia -- EBV, Epstein-Barr virus -- FBS, fetal bovine serum -- FISH, fluorescent in situ hybridisation -- FSHD, facioscapulohumeral muscular dystrophy -- HAT, hypoxantine-aminopterin-thymidine -- IF, intermediate filaments -- IFBD, IF-binding domain -- LCL, lymphoblastoid cell line -- ODED, oculo-digito-oesophageal-duodenal -- PA-JEB, junctional epidermolysis bullosa with pyloric atresia -- PBL, peripheral blood lymphocytes -- RPMI medium, Roswell Park Memorial Institute medium; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2003.012260
• Languages: English
• ISSNs: 1468-6244