期刊
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
卷 26, 期 5, 页码 981-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.hoc.2012.07.002
关键词
Myeloproliferative neoplasm; Uniparental disomy; SNP array; TET2; CBL; EZH2; JAK2
The finding of somatically acquired uniparental disomy, where both copies of a chromosome pair or parts of chromosomes have originated from one parent, has led to the discovery of several novel mutated genes in myeloproliferative neoplasms and related disorders. This article examines how the development of single nucleotide polymorphism array technology has facilitated the identification of regions of acquired uniparental disomy and has led to a much greater understanding of the molecular pathology of these heterogeneous diseases.
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