Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family
Abstract Objective: To perform clinical and genetic analysis in a patient suffering from lymphopenia (low B-lymphocyte, T-lymphocyte and healthy Natural Killer cells). Methodology: In the current research project we enrolled a female child from Rawalpindi district. Laboratory investig...
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Main Authors: | Shahida Awais, Lubna Siddique, Nida Shafi, Sobia Humerah, Summyah Niazi, Wafa Omer |
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Format: | Article |
Language: | English |
Published: |
Rawalpindi Medical University
2024-06-01
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Series: | Journal of Rawalpindi Medical College |
Online Access: | https://www.journalrmc.com/index.php/JRMC/article/view/2588 |
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