Open AccessNovel Compound Heterozygous Mutations in ZAP70 Leading to a SCID Phenotype with Normal Downstream In vitro Signaling
Author(s) -
Kelsey Kaman,
Monique Abrams,
Kerry Dobbs,
Luigi D. Notarangelo,
Ottavia M. Delmonte,
Boaz Palterer,
Sung-Yun Pai,
Alicia Johnston
Publication year - 2020
Publication title -
journal of clinical immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.739
H-Index - 96
eISSN - 1573-2592
pISSN - 0271-9142
DOI - 10.1007/s10875-020-00913-4
Subject(s) - phenotype , in vitro , downstream (manufacturing) , biology , signal transduction , microbiology and biotechnology , genetics , gene , economics , operations management