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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
Author(s) -
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
Publication year - 2019
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15594
Subject(s) - genetics , sanger sequencing , exome sequencing , biology , genetic heterogeneity , single nucleotide polymorphism , gene , frameshift mutation , population , exome , mutation , phenotype , genotype , medicine , environmental health