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...

Description complète

Enregistré dans:

Détails bibliographiques
Auteurs principaux:	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
Langue:	EN
Publié:	Public Library of Science (PLoS) 2021
Sujets:	Medicine R Science Q
Accès en ligne:	https://doaj.org/article/b260bd1f9264470b8851b4de048cbdfb
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!

Soyez le premier à ajouter un commentaire!

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

Documents similaires