In this issue of , Bellanné-Chantelot et al noted that mutations in signal recognition particle 54 () cause an inherited neutropenia in 23 individuals with features of both severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS).
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148449 | PMC |
| http://dx.doi.org/10.1182/blood-2018-07-859959 | DOI Listing |
Publication Analysis
Top Keywords
srp54 neutropenia
4
neutropenia nosology
4
nosology issue
4
issue bellanné-chantelot
4
bellanné-chantelot mutations
4
mutations signal
4
signal recognition
4
recognition particle
4
particle inherited
4
inherited neutropenia
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!