Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea

Ann Lab Med. 2020 Jul;40(4):341-344. doi: 10.3343/alm.2020.40.4.341.

Authors

Nani Jung¹, Do Hoon Kim², Jung Sook Ha², Ye Jee Shim³

Affiliations

¹ Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Medical Center, Daegu, Korea.
² Department of Laboratory Medicine, Keimyung University School of Medicine, Keimyung University Dongsan Medical Center, Daegu, Korea.
³ Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Medical Center, Daegu, Korea. yejeeshim@dsmc.or.kr.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Asian People / genetics*
Base Sequence
DNA / chemistry
DNA / metabolism
Exome Sequencing
Hand / diagnostic imaging
Humans
Infant, Newborn
Leukocyte Count
Male
Pedigree
Republic of Korea
Thrombocytosis / diagnosis*
Thrombocytosis / genetics
Thrombopoietin / blood
Thrombopoietin / genetics*

Substances

DNA
Thrombopoietin