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letter . 2004 Jun;41(6):e71. doi: 10.1136/jmg.2003.012260
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 Bonaglia
, S Bova
, G Lanzi
, E Repetti
, S Giglio
, C Baschirotto
, T Pramparo
, L Avolio
, R Bragheri
, P Maraschio
, O Zuffardi
R Giorda
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A Cerritello
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M Bonaglia
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S Bova
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G Lanzi
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E Repetti
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S Giglio
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C Baschirotto
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T Pramparo
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L Avolio
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R Bragheri
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P Maraschio
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O Zuffardi
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PMCID: PMC1735795 PMID: 15173237