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

American Journal of Hematology

Volumn 82, Issue 3, 2007, Pages 240-241

  Passos Coelho, José Luis ^a   Sebastiao M ^a   Gameiro, P ^a   Reichert, A ^a   Vieira, L ^b   Ferreira, I ^a   Miranda, N ^a   Guimaraes A ^a   Leal Da Costa, F ^a   Abecasis, M M ^a  

^a INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

c mpl mutation; Congenital amegakaryocytic thrombocytopenia; Stem cell transplantation

Indexed keywords

THROMBOPOIETIN; THROMBOPOIETIN RECEPTOR;

ALLOGENEIC STEM CELL TRANSPLANTATION; APLASTIC ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; C MPL GENE; CASE REPORT; CLINICAL FEATURE; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; DNA DETERMINATION; FEMALE; GENE; HUMAN; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THROMBOCYTOPENIA;

CHILD, PRESCHOOL; FEMALE; GENOMIC IMPRINTING; HETEROZYGOTE; HUMANS; MEGAKARYOCYTES; MUTATION, MISSENSE; RECEPTORS, THROMBOPOIETIN; STEM CELL TRANSPLANTATION; THROMBOCYTOPENIA; TREATMENT OUTCOME;

EID: 33847629291     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.20756     Document Type: Article

References (5)

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2. Ballmaier M, Germeshausen M, Schulze H, et al. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood 2001;97:139-146.
3. Ihara K, Ishii E, Eguchi M, et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci 1999;96:3132-3136.
4. Tonelli R, Scardovi AL, Pession A, et al. Compound heterozygosity for two different amino-acid substitution mutations in the thrombopietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia. Hum Genet 2000;107:225-233.
5. Van den Oudenrijn S, Bruin M, Folman C, et, al. Mutations in the thrombopietin receptor, mpl, in children with congenital amegakaryocytic thrombocytopenia. Br J Haematol 2000;110:441-448.