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

British Journal of Haematology, EarlyView.

Source: British Journal of Haematology - September 10, 2018 Category: Hematology Authors: Jacopo Morini , Lucia Nacci , Gabriele Babini , Simone Cesaro , Roberto Valli , Andrea Ottolenghi , Elena Nicolis , Emily Pintani , Emanuela Maserati , Marco Cipolli , Cesare Danesino , Claudia Scotti , Antonella Minelli Source Type: research