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.

R. Giorda; A. Cerritello; M. C. Bonaglia; S. Bova; G. Lanzi; E. Repetti; S. Giglio; C. Baschirotto; T. Pramparo; L. Avolio; R. Bragheri; P. Maraschio; O. Zuffardi

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.

R. Giorda, A. Cerritello, M. C. Bonaglia, S. Bova, G. Lanzi, E. Repetti, S. Giglio, C. Baschirotto, T. Pramparo, L. Avolio, R. Bragheri, P. Maraschio, O. Zuffardi

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Journal of Medical Genetics
Volume	41
Issue number	6
Publication status	Published - Jun 2004

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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. (2004). 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. Journal of Medical Genetics, 41(6).

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. / 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.

In: Journal of Medical Genetics, Vol. 41, No. 6, 06.2004.

Research output: Contribution to journal › Article › peer-review

Giorda, R, Cerritello, A, Bonaglia, MC, Bova, S, Lanzi, G, Repetti, E, Giglio, S, Baschirotto, C, Pramparo, T, Avolio, L, Bragheri, R, Maraschio, P & Zuffardi, O 2004, '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.', Journal of Medical Genetics, vol. 41, no. 6.

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. / 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. In: Journal of Medical Genetics. 2004 ; Vol. 41, No. 6.

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