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Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia

BACKGROUND: Hereditary hemolytic anemia (HHA) refers to a heterogeneous group of genetic disorders that share one common feature: destruction of circulating red blood cells (RBCs). The destruction of RBCs may be due to membranopathies, enzymopathies, or hemoglobinopathies. Because these are genetic...

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Detalles Bibliográficos
Autores principales: Choi, Yu Jeong, Kim, Hongkyung, Ahn, Won Kee, Lee, Seung-Tae, Han, Jung Woo, Choi, Jong Rak, Lyu, Chuhl Joo, Hahn, Seungmin, Shin, Saeam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496260/
https://www.ncbi.nlm.nih.gov/pubmed/37697358
http://dx.doi.org/10.1186/s12920-023-01648-y