首页> European journal of human genetics : EJHG> Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

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第一作者： Ivana,Matera

第一单位： U.O.C. Genetica Medica, Istituto Giannina Gaslini, Genova, Italy.

作者： Ivana,Matera ^[1] ; Marta,Rusmini ^[1] ; Yiran,Guo ^[2] ; Margherita,Lerone ^[1] ; Jiankang,Li ^[3] ; Jianguo,Zhang ^[3] ; Marco,Di Duca ^[4] ; Paolo,Nozza ^[5] ; Manuela,Mosconi ^[6] ; Alessio,Pini Prato ^[6] ; Giuseppe,Martucciello ^[7] ; Arrigo,Barabino ^[8] ; Francesco,Morandi ^[9] ; Roberto,De Giorgio ^[10] ; Vincenzo,Stanghellini ^[10] ; Roberto,Ravazzolo ^[11] ; Marcella,Devoto ^[12] ; Hakon,Hakonarson ^[2] ; Isabella,Ceccherini ^[1]

作者单位： U.O.C. Genetica Medica, Istituto Giannina Gaslini, Genova, Italy. ^[1] Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[2] BGI-Shenzhen, Shenzhen, China. ^[3] Laboratory of Pathophysiology of Uremia, Istituto Giannina Gaslini, Genova, Italy. ^[4] Pathology Unit, Istituto Giannina Gaslini, Genova, Italy. ^[5] Paediatric Surgery Unit, Istituto Giannina Gaslini, Genova, Italy. ^[6] Paediatric Surgery Unit, Istituto Giannina Gaslini, Genova, Italy.;DiNOGMI, University of Genova, Genova, Italy. ^[7] Gastroenterology and Endoscopy Unit, Istituto Giannina Gaslini, Genova, Italy. ^[8] U.O. Pediatria, Ospedale Sacra Famiglia, Erba (CO), Italy. ^[9] Department of Medical and Surgical Sciences, University of Bologna, St Orsola-Malpighi Hospital, Bologna, Italy. ^[10] U.O.C. Genetica Medica, Istituto Giannina Gaslini, Genova, Italy.;DiNOGMI, University of Genova, Genova, Italy. ^[11] Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.;Department of Molecular Medicine, Sapienza University, Rome, Italy. ^[12]