Article
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.
Blood - 1 Oct 2006
Ancliff Phil J, Blundell Michael P, Cory Giles O, Calle Yolanda, Worth Austen, Kempski Helena, Burns Siobhan, Jones Gareth E, Sinclair Jo, Kinnon Christine, Hann Ian M, Gale Rosemary E, Linch David C, Thrasher Adrian J
Abstract excerpt
Severe congenital neutropenia (SCN) is characterized by neutropenia, recurrent bacterial infections, and maturation arrest in the bone marrow. Although many cases have mutations in the ELA2 gene encoding neutrophil elastase, a significant proportion remain undefined at a molecular level. A mutati...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.