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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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 |
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Format: | article |
Language: | EN |
Published: |
Public Library of Science (PLoS)
2021
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Online Access: | https://doaj.org/article/b260bd1f9264470b8851b4de048cbdfb |
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