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Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience.

Molecular diagnosis & therapy - 1 May 2024

Lee Youngeun, Seo Soo Hyun, Kim Jinho, Kim Sang-A, Lee Ji Yun, Lee Jeong-Ok, Bang Soo-Mee, Park Kyoung Un, Hwang Sang Mee

Abstract excerpt

INTRODUCTION: Erythrocytosis is attributed to various clinical and molecular factors. Many cases of JAK2-unmutated erythrocytosis remain undiagnosed. We investigated the characteristics and causes of JAK2-unmutated erythrocytosis. METHODS: We assessed the clinical and laboratory results of patients with erythrocytosis without JAK2 mutations and performed targeted next-generation sequencing (NGS) panels for...

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Adolescent
Aged, 80 and over
Germ-Line Mutation
High-Throughput Nucleotide Sequencing
Janus Kinase 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tertiary Care Centers

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PMID: 38568469
DOI: 10.1007/s40291-024-00703-3
PMCID: PMC11068693

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