Article
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
Nature medicine - 1 Jul 2006
Almeida Antonio M, Murakami Yoshiko, Layton D Mark, Hillmen Peter, Sellick Gabrielle S, Maeda Yusuke, Richards Stephen, Patterson Scott, Kotsianidis Ioannis, Mollica Luigina, Crawford Dorothy H, Baker Alastair, Ferguson Michael, Roberts Irene, Houlston Richard, Kinoshita Taroh, Karadimitris Anastasios
Abstract excerpt
Attachment to the plasma membrane by linkage to a glycosylphosphatidylinositol (GPI) anchor is a mode of protein expression highly conserved from protozoa to mammals. As a clinical entity, deficiency of GPI has been recognized as paroxysmal nocturnal hemoglobinuria, an acquired clonal disorder associated with somatic mutations of the X-linked PIGA gene in hematopoietic cells. We have identified a novel disease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.