Myeloid neoplasm with a novel cryptic PDGFRB rearrangement detected by next-generation sequencing.
Sign Up to like & getrecommendations! Published in 2020 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2020.03.002
Abstract: Rearrangements of PDGFRB are defining cytogenetic abnormalities seen in "Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRB" and are generally evident by common cytogenetic methods. Here we present an unique case in which karyotyping and… read more here.
Keywords: pdgfrb rearrangement; rearrangement detected; detected next; rearrangement ... See more keywords
Novel Promoter Mutation (HBB:C.-139_-138del) Associated with β-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China
Sign Up to like & getrecommendations! Published in 2023 at "Hemoglobin"
DOI: 10.1080/03630269.2023.2182215
Abstract: Abstract Here we report a novel β-globin gene mutation in the promoter (HBB:c.-139_-138delAC) detected by next-generation sequencing (NGS). The proband was a 28-year-old Chinese male, living in Shenzhen City, Guangdong Province, who originates from Hunan… read more here.
Keywords: promoter; detected next; hbb 139; next generation ... See more keywords