Congenital amegakaryocytic thrombocytopenia—Report of a new  c‐mpl  gene missense mutation | Zendy

PassosCoelho J.L. | Zendy; Sebastião M. | Zendy; Gameiro P. | Zendy; Reichert A. | Zendy; Vieira L. | Zendy; Ferreira I. | Zendy; Miranda N. | Zendy; Guimarães A. | Zendy; LealdaCosta F. | Zendy; Abecasis M.M. | Zendy

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Congenital amegakaryocytic thrombocytopenia—Report of a new c‐mpl gene missense mutation

Author(s) -

PassosCoelho J.L.,

Sebastião M.,

Gameiro P.,

Reichert A.,

Vieira L.,

Ferreira I.,

Miranda N.,

Guimarães A.,

LealdaCosta F.,

Abecasis M.M.

Publication year - 2007

Publication title -

american journal of hematology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.456

H-Index - 105

eISSN - 1096-8652

pISSN - 0361-8609

DOI - 10.1002/ajh.20756

Subject(s) - missense mutation , pancytopenia , compound heterozygosity , exon , medicine , mutation , thrombopoietin , cord blood , genetics , gene , biology , immunology , bone marrow , stem cell , haematopoiesis

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. Am. J. Hematol., 2007. © 2006 Wiley‐Liss, Inc.

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