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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Detalles Bibliográficos
Autores principales: Jain, Abhinav, Govindaraj, Geeta Madathil, Edavazhippurath, Athulya, Faisal, Nabeel, Bhoyar, Rahul C., Gupta, Vishu, Uppuluri, Ramya, Manakkad, Shiny Padinjare, Kashyap, Atul, Kumar, Anoop, Divakar, Mohit Kumar, Imran, Mohamed, Sawant, Sneha, Dalvi, Aparna, Chakyar, Krishnan, Madkaikar, Manisha, Raj, Revathi, Sivasubbu, Sridhar, Scaria, Vinod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8274882/
https://www.ncbi.nlm.nih.gov/pubmed/34252140
http://dx.doi.org/10.1371/journal.pone.0254407

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8274882/
https://www.ncbi.nlm.nih.gov/pubmed/34252140
http://dx.doi.org/10.1371/journal.pone.0254407

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