Your browser doesn't support javascript.
loading
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Morini, Jacopo; Nacci, Lucia; Babini, Gabriele; Cesaro, Simone; Valli, Roberto; Ottolenghi, Andrea; Nicolis, Elena; Pintani, Emily; Maserati, Emanuela; Cipolli, Marco; Danesino, Cesare; Scotti, Claudia; Minelli, Antonella.
Affiliation
  • Morini J; Department of Physics, University of Pavia, Pavia, Italy.
  • Nacci L; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Babini G; Department of Physics, University of Pavia, Pavia, Italy.
  • Cesaro S; Oncoematologia Pediatrica, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
  • Valli R; Department of Medicine and Surgery, University of Insubria, Varese, Italy.
  • Ottolenghi A; Department of Physics, University of Pavia, Pavia, Italy.
  • Nicolis E; Laboratory of Transfusion Medicine, University Hospital of Verona, Verona, Italy.
  • Pintani E; Laboratory of Transfusion Medicine, University Hospital of Verona, Verona, Italy.
  • Maserati E; Department of Medicine and Surgery, University of Insubria, Varese, Italy.
  • Cipolli M; Cystic Fibrosis Regional Centre Ospedali Riuniti, Ancona, Italy.
  • Danesino C; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Scotti C; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Minelli A; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Br J Haematol ; 185(3): 627-630, 2019 05.
Article in En | MEDLINE | ID: mdl-30198570
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peptide Elongation Factors / Ribonucleoprotein, U5 Small Nuclear / Signal Recognition Particle / Alleles / HSP40 Heat-Shock Proteins / Exome Sequencing / Shwachman-Diamond Syndrome / Heterozygote / Mutation Limits: Adult / Female / Humans / Male Language: En Journal: Br J Haematol Year: 2019 Document type: Article Affiliation country: Italy
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peptide Elongation Factors / Ribonucleoprotein, U5 Small Nuclear / Signal Recognition Particle / Alleles / HSP40 Heat-Shock Proteins / Exome Sequencing / Shwachman-Diamond Syndrome / Heterozygote / Mutation Limits: Adult / Female / Humans / Male Language: En Journal: Br J Haematol Year: 2019 Document type: Article Affiliation country: Italy