1.
Bone Marrow Transplant
; 46(5): 759-61, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20661233
Assuntos
Herpesvirus Humano 4/isolamento & purificação , Hidroa Vaciniforme/patologia , Linfoma de Células T/cirurgia , Linfoma de Células T/virologia , Linfócitos T Citotóxicos/imunologia , Criança , Infecções por Vírus Epstein-Barr , Transplante de Células-Tronco Hematopoéticas , Humanos , Hidroa Vaciniforme/virologia , Imunoterapia , Masculino
2.
Br J Haematol
; 99(3): 575-7, 1997 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-9401068
RESUMO
We investigated an 8-year-old Arab girl with severe factor XI deficiency; one sibling and her father also have severe factor XI deficiency. Her parents and her father's parents are first cousins. Restriction analysis and DNA sequencing excluded the type I, II, III and IV mutations. We demonstrated a previously undescribed C-->A mutation at nucleotide 1254 in exon 11 resulting in a threonine to asparagine (T-->N) substitution at amino acid 386. We postulate that this substitution interferes with folding and secretion of the molecule.