Year: 2006
Type: article
Study design: Case Report
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.
Source: American Journal of Hematology
DOI: 10.1002/ajh.20756
Authors: J.L. Passos‐Coelho, M. Sebastião, P. Gameiro, A. Reichert, L. Vieira, I. Ferreira, N. Miranda, A. Guimarães, F. Leal‐da‐Costa, M.M. Abecasis
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W1998059413