Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia

Shah, AJL; Kumar, C; Shanmukhaiah, C; Rajendran, A; Mudaliar, S; Idicula-Thomas, S; Vundinti, BR

Vundinti, BR (通讯作者),ICMR, Natl Inst Immunohaematol, Dept Cytogenet, 13th floor,New Multistoreyed Bldg,KEM Hosp Campus, Mumbai 400012, Maharashtra, India.

ANNALS OF HEMATOLOGY, 2023; 102 (10): 2683

Abstract

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, genetic, autosomal recessive disorder characterized by severe thrombocytopenia, due to i......

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