论文信息 - Germline JAK2 mutation in a family with hereditary thrombocytosis.

Germline JAK2 mutation in a family with hereditary thrombocytosis.

In a family with a germline mutation in JAK2, thrombocytosis was noted in five family members carrying the mutation and not in family members without the mutation. Baseline colony formation was una...

[1] N. Cross. Genetic and epigenetic complexity in myeloproliferative neoplasms. , 2011, Hematology. American Society of Hematology. Education Program.

[2] Tai-Sung Lee,et al. Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations , 2009, BMC Structural Biology.

[3] Stefan N Constantinescu,et al. Substitution of Pseudokinase Domain Residue Val-617 by Large Non-polar Amino Acids Causes Activation of JAK2* , 2008, Journal of Biological Chemistry.

[4] H. Kantarjian,et al. Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias. , 2009, The Journal of molecular diagnostics : JMD.

[5] P. Campbell,et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders , 2005, The Lancet.