Family-Based Next-Generation Sequencing Study Identifies an IL2RG Variant in an Infant with Primary Immunodeficiency

Primary immunodeficiencies (PIDs) are a rare and heterogeneous group of inherited genetic disorders that are characterized by an absent or impaired immune system. In this report, we describe the use of next-generation sequencing to investigate a male infant with clinical and immunological manifestat...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:OMICS
मुख्य लेखकों: Bandari, Aravind K., Bhat, Sunil, Archana, MV, Yadavalli, Sunita, Patel, Krishna, Rajagopalan, Pavithra, Madugundu, Anil K., Madkaikar, Manisha, Reddy, Kavita, Muthusamy, Babylakshmi, Pandey, Akhilesh
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Mary Ann Liebert, Inc., publishers 2019
विषय:
Research Articles
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6534087/
https://ncbi.nlm.nih.gov/pubmed/31100039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/omi.2018.0196
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