title: Congenital amegakaryocytic thrombocytopenia--report of a new c-mpl gene missense mutation.
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.
authors.affiliation: Bone Marrow Transplantation Unit, Instituto Português de Oncologia de Francisco Gentil, Lisbon, Portugal. jcoelho@ipolisboa.min-saude.pt
authors.forename: J L
authors.initials: JL
authors.lastname: Passos-Coelho
authors.forename: M
authors.initials: M
authors.lastname: Sebastião
authors.forename: P
authors.initials: P
authors.lastname: Gameiro
authors.forename: A
authors.initials: A
authors.lastname: Reichert
authors.forename: L
authors.initials: L
authors.lastname: Vieira
authors.forename: I
authors.initials: I
authors.lastname: Ferreira
authors.forename: N
authors.initials: N
authors.lastname: Miranda
authors.forename: A
authors.initials: A
authors.lastname: Guimarães
authors.forename: F
authors.initials: F
authors.lastname: Leal-da-Costa
authors.forename: M M
authors.initials: MM
authors.lastname: Abecasis
mesh_terms: D002675:Child, Preschool; D005260:Female; D018392:Genomic Imprinting; D006579:Heterozygote; D006801:Humans; D008533:Megakaryocytes / Q000473:pathology; D020125:Mutation, Missense; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D033581:Stem Cell Transplantation; D013921:Thrombocytopenia / Q000151:congenital* / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016896:Treatment Outcome
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human