Molecular Diagnosis of Inherited Immune Disorders.

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第一作者： Jocelyn R,Farmer

第一单位： Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Boston, MA, USA; Ragon Institute of MGH, MIT and Harvard, Cambridge, MA, USA; Center for Advanced Molecular Diagnostics, Brigham and Women's Hospital, Boston, MA, USA. Electronic address: jrfarmer@partners.org.

作者： Jocelyn R,Farmer ^[1] ; Vinay S,Mahajan ^[2]

作者单位： Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Boston, MA, USA; Ragon Institute of MGH, MIT and Harvard, Cambridge, MA, USA; Center for Advanced Molecular Diagnostics, Brigham and Women's Hospital, Boston, MA, USA. Electronic address: jrfarmer@partners.org. ^[1] Ragon Institute of MGH, MIT and Harvard, Cambridge, MA, USA; Center for Advanced Molecular Diagnostics, Brigham and Women's Hospital, Boston, MA, USA. ^[2]

关键词 Common variable immune deficiency (CVID)Exome sequencing Molecular diagnostics Newborn screening Next-generation sequencing Primary immunodeficiency Severe combined immune deficiency (SCID)TREC assay

主题词高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);分子诊断技术(Molecular Diagnostic Techniques)

DOI 10.1016/j.cll.2019.07.013

PMID 31668278

发布时间 2022-12-07

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