PTPRJ: a novel inherited thrombocytopenia gene. Blood 2019 Mar 21;133(12):1272-1274
Date
03/23/2019Pubmed ID
30898775Pubmed Central ID
PMC6428668DOI
10.1182/blood-2019-01-895102Scopus ID
2-s2.0-85063642493 (requires institutional sign-in at Scopus site) 2 CitationsAbstract
In this issue of Blood, Marconi et al use a high-throughput exome-sequencing approach to identify 2 biallelic loss-of-function mutations in PTPRJ that caused autosomal-recessive thrombocytopenia and a bleeding disorder in 2 siblings.
Author List
Wen R, Wang DAuthor
Demin Wang PhD Professor in the Microbiology and Immunology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
HumansMutation
Receptor-Like Protein Tyrosine Phosphatases, Class 3
Thrombocytopenia
