Whole exome sequencing for diagnosis of hereditary thrombocytopenia

Hereditary thrombocytopenia comprises extremely diverse diseases that are difficult to diagnose by phenotypes alone. Definite diagnoses are helpful for patient (Pt) management. To evaluate the role of whole exome sequencing (WES) in these Pts. Cases with unexplained long-standing thrombocytopenia an...

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Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: Mekchay, Ponthip, Ittiwut, Chupong, Ittiwut, Rungnapa, Akkawat, Benjaporn, Le Grand, Supang Maneesri, Leela-adisorn, Netchanok, Muanpetch, Suwanna, Khovidhunkit, Weerapan, Sosothikul, Darintr, Shotelersuk, Vorasuk, Suphapeetiporn, Kanya, Rojnuckarin, Ponlapat
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2020
Assuntos:
4800
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7676547/
https://ncbi.nlm.nih.gov/pubmed/33217855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000023275
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