| Literature DB >> 17034029 |
J L Passos-Coelho1, M Sebastião, P Gameiro, A Reichert, L Vieira, I Ferreira, N Miranda, A Guimarães, F Leal-da-Costa, M M Abecasis.
Abstract
A 44-month old girl with congenital amegakaryocytic thrombocytopenia, already with pancytopenia, underwent an unrelated allogeneic cord blood transplantation with recovery of normal blood cell counts. The patient was a compound heterozygote for two c-mpl missense mutations inherited from both parents, one of them, a G578A exon 4 mutation leading to a cysteine to tyrosine replacement of codon 193, previously unreported. Copyright (c) 2006 Wiley-Liss, Inc.Entities:
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Year: 2007 PMID： 17034029 DOI： 10.1002/ajh.20756
Source DB: PubMed Journal: Am J Hematol ISSN： 0361-8609 Impact factor: 10.047