Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia.

Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia.

X-linked agammaglobulinemia (XLA, OMIM #300755) is a primary immunodeficiency disorder caused by pathogenic variations in the BTK gene, characterized by failure of development and maturation of B lymphocytes. The estimated prevalence worldwide is 1 in 190,000 male births. Recently, genome sequencing...

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Bibliographic Details
Main Authors: Abhinav Jain, Geeta Madathil Govindaraj, Athulya Edavazhippurath, Nabeel Faisal, Rahul C Bhoyar, Vishu Gupta, Ramya Uppuluri, Shiny Padinjare Manakkad, Atul Kashyap, Anoop Kumar, Mohit Kumar Divakar, Mohamed Imran, Sneha Sawant, Aparna Dalvi, Krishnan Chakyar, Manisha Madkaikar, Revathi Raj, Sridhar Sivasubbu, Vinod Scaria
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0254407

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https://doi.org/10.1371/journal.pone.0254407

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