Whole genome sequencing identifies novel structural variant in a large Indian family affected with X...
Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia
About this item
Full title
Author / Creator
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 and Scaria, Vinod
Publisher
San Francisco: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
San Francisco: Public Library of Science
Subjects
More information
Scope and Contents
Contents
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 has been widely used in difficult to diagno...
Alternative Titles
Full title
Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2550614032
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2550614032
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0254407
