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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Bibliographic Details
Main Authors: Shahida Awais, Lubna Siddique, Nida Shafi, Sobia Humerah, Summyah Niazi, Wafa Omer
Format: Article
Language:English
Published: Rawalpindi Medical University 2024-06-01
Series:Journal of Rawalpindi Medical College
Online Access:https://www.journalrmc.com/index.php/JRMC/article/view/2588
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