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Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) is an extremely rare inherited primary immunodeficiency characterized by recurrent bacterial infections, decrease in number of mature B cells and low serum immunoglobulins. XLA is caused by mutations in the gene encoding Bruton's tyrosine kinase. We report a ca...

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Detalles Bibliográficos
Autores principales:	Rawat, Amit, Karuthedath Vellarikkal, Shamsudheen, Verma, Ankit, Jayarajan, Rijith, Gupta, Anju, Singh, Surjit, Chopra, Anita, Kumar, Rajive, Scaria, Vinod, Sivasubbu, Sridhar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	F1000Research 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590079/ https://www.ncbi.nlm.nih.gov/pubmed/28928935 http://dx.doi.org/10.12688/f1000research.9472.2

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