Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing
about
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic functionPerforin: structure, function, and role in human immunopathology.Calcium-dependent plasma membrane binding and cell lysis by perforin are mediated through its C2 domain: A critical role for aspartate residues 429, 435, 483, and 485 but not 491.Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis.Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
P2860
Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing
description
article
@en
im März 2003 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в лютому 2003
@uk
name
Novel perforin mutation in a p ...... sis and CD45 abnormal splicing
@en
Novel perforin mutation in a p ...... sis and CD45 abnormal splicing
@nl
type
label
Novel perforin mutation in a p ...... sis and CD45 abnormal splicing
@en
Novel perforin mutation in a p ...... sis and CD45 abnormal splicing
@nl
prefLabel
Novel perforin mutation in a p ...... sis and CD45 abnormal splicing
@en
Novel perforin mutation in a p ...... sis and CD45 abnormal splicing
@nl
P2093
P356
P1476
Novel perforin mutation in a p ...... sis and CD45 abnormal splicing
@en
P2093
Darren R Flower
Diana L Wallace
James McCormick
Stephan Strobel
P304
P356
10.1002/AJMG.A.10010
P577
2003-03-01T00:00:00Z