title: Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
authors: Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address: antonella.minelli@unipv.it.
authors: Antonella
authors: A
authors: Minelli
authors: Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors: Lucia
authors: L
authors: Nacci
authors: Human and Medical Genetics, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
authors: Roberto
authors: R
authors: Valli
authors: Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors: Giampiero
authors: G
authors: Pietrocola
authors: Pediatric Hematology, Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.
authors: Ugo
authors: U
authors: Ramenghi
authors: Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors: Franco
authors: F
authors: Locatelli
authors: Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors: Letizia
authors: L
authors: Brescia
authors: Laboratory of Transfusion Medicine, University Hospital of Verona, Verona, Italy.
authors: Elena
authors: E
authors: Nicolis
authors: Cystic Fibrosis Centre, Azienda Ospedaliera Universitaria, Verona, Italy.
authors: Marco
authors: M
authors: Cipolli
authors: Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors: Cesare
authors: C
authors: Danesino
mesh_terms: D001483:Base Sequence; D001855:Bone Marrow Diseases / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005091:Exons; D005190:Family; D005260:Female; D006801:Humans; D008068:Lipomatosis / Q000235:genetics*; D008297:Male; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D000081003:Shwachman-Diamond Syndrome
chemical_list: D011506:Proteins; C470521:SBDS protein, human