[HTML][HTML] In vivo inactivation of MASTL kinase results in thrombocytopenia
HJ Johnson, MJ Gandhi, E Shafizadeh… - Experimental …, 2009 - Elsevier
OBJECTIVE: A missense mutation in the microtubule-associated serine/threonine-like
kinase gene (MASTL, FLJ14813) on human chromosome 10 was previously linked to a
novel form of autosomal dominant inherited thrombocytopenia in a single pedigree. The
mutation results in an amino acid change from glutamic acid at position 167 to aspartic acid
and segregates perfectly with thrombocytopenic individuals within this extended family. The
phenotype is characterized by mild thrombocytopenia with an average platelet count of …
kinase gene (MASTL, FLJ14813) on human chromosome 10 was previously linked to a
novel form of autosomal dominant inherited thrombocytopenia in a single pedigree. The
mutation results in an amino acid change from glutamic acid at position 167 to aspartic acid
and segregates perfectly with thrombocytopenic individuals within this extended family. The
phenotype is characterized by mild thrombocytopenia with an average platelet count of …