Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.

Minelli, Antonella; Nacci, Lucia; Valli, Roberto; Pietrocola, Giampiero; Ramenghi, Ugo; Locatelli, Franco; Brescia, Letizia; Nicolis, Elena; Cipolli, Marco; Danesino, Cesare

Minelli, Antonella; Nacci, Lucia; Valli, Roberto; Pietrocola, Giampiero; Ramenghi, Ugo; Locatelli, Franco; Brescia, Letizia; Nicolis, Elena; Cipolli, Marco; Danesino, Cesare.

Afiliación

Minelli A; Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address: antonella.minelli@unipv.it.
Nacci L; Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Valli R; Human and Medical Genetics, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
Pietrocola G; Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Ramenghi U; Pediatric Hematology, Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.
Locatelli F; Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Brescia L; Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Nicolis E; Laboratory of Transfusion Medicine, University Hospital of Verona, Verona, Italy.
Cipolli M; Cystic Fibrosis Centre, Azienda Ospedaliera Universitaria, Verona, Italy.
Danesino C; Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Blood Cells Mol Dis ; 60: 33-5, 2016 09.

Article en En | MEDLINE | ID: mdl-27519942

Asunto(s)

Secuencia de Bases; Enfermedades de la Médula Ósea/genética; Insuficiencia Pancreática Exocrina/genética; Exones; Lipomatosis/genética; Proteínas/genética; Eliminación de Secuencia; Familia; Femenino; Humanos; Masculino; Síndrome de Shwachman-Diamond

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Insuficiencia Pancreática Exocrina / Enfermedades de la Médula Ósea / Secuencia de Bases / Proteínas / Exones / Eliminación de Secuencia / Lipomatosis Límite: Female / Humans / Male Idioma: En Revista: Blood Cells Mol Dis Asunto de la revista: HEMATOLOGIA Año: 2016 Tipo del documento: Article

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