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Mutations in Btk in Patients with Presumed X-Linked Agammaglobulinemia

✍ Scribed by Mary Ellen Conley; Derrick Mathias; Jason Treadaway; Yoshiyuki Minegishi; Jurg Rohrer


Book ID
117852385
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
463 KB
Volume
62
Category
Article
ISSN
0002-9297

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πŸ“œ SIMILAR VOLUMES


Bruton tyrosine kinase gene mutations in
✍ Yue Wang; Hirokazu Kanegane; Ozden Sanal; FΓΌgen Ersoy; Ilhan Tezcan; Takeshi Fut πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 25 KB

Communicated by Mark H. Paalman X-linked agammglobulinemia (XLA) is a ptototypical humoral immunodeficiency caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). The genetic defect in XLA impairs early B cell development resulting in marked reduction of mature B cells in the blood

Identification of mutations of Bruton's
✍ Sergio Massayuki Tani; Yue Wang; Hirokazu Kanegane; Takeshi Futatani; Jorge Pint πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 145 KB

Mutations in the Bruton tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in the peripheral blood. We evaluated 17 male Brazilian patients