Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations-Reference-Cited by-同舟云学术

Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations

Published:2018-09-10 Issue:3 Volume:185 Page:627-630
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Morini Jacopo¹,Nacci Lucia²,Babini Gabriele¹,Cesaro Simone³,Valli Roberto⁴,Ottolenghi Andrea¹,Nicolis Elena⁵,Pintani Emily⁵,Maserati Emanuela⁴^ORCID,Cipolli Marco⁶,Danesino Cesare²,Scotti Claudia²,Minelli Antonella²^ORCID

Affiliation:

1. Department of Physics University of Pavia Pavia Italy

2. Department of Molecular Medicine University of Pavia Pavia Italy

3. Oncoematologia Pediatrica Azienda Ospedaliera Universitaria Integrata Verona Italy

4. Department of Medicine and Surgery University of Insubria Varese Italy

5. Laboratory of Transfusion Medicine University Hospital of Verona Verona Italy

6. Cystic Fibrosis Regional Centre Ospedali Riuniti Ancona Italy

Funder

Ministero dell’Istruzione, dell’Università e della Ricerca

Università degli Studi di Pavia

Publisher

Wiley