𝔖 Bobbio Scriptorium
✦   LIBER   ✦

BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia

✍ Scribed by Maurilia Fiorini; Roberta Franceschini; Annarosa Soresina; Richard-Fabian Schumacher; Alberto G. Ugazio; Paolo Rossi; Alessandro Plebani; Luigi D. Notarangelo


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
60 KB
Volume
23
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis


Communicated by


πŸ“œ SIMILAR VOLUMES


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

Identification of the bruton tyrosine ki
✍ Marija Velickovic; Madhuri L. Prasad; Susan A. Weston; Elizabeth M. Benson πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 33 KB

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. Twenty Australian patients with an XLA phenotype, from 15 unrelated families, were found to have 14 mutations. Five of the mutations were previously described c.83G>A (p.R28H), c.86

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

Novel insertions of Bruton tyrosine kina
✍ Michael P. Okoh; Leena Kainulainen; Kaarina Heiskanen; M. Nizam Isa; Kim Varming πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 34 KB

Mutations in the gene encoding Bruton tyrosine kinase (BTK) result in X-linked agammaglobulinemia (XLA), an immunodeficiency of antibody defect. By using base excision sequence scanning method (BESS) followed by direct sequencing we found in seven unrelated families with a classical XLA phenotype va

Novel JARID1C/SMCX mutations in patients
✍ Andreas Tzschach; Steffen Lenzner; Bettina Moser; Richard Reinhardt; Jamel Chell πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 172 KB

X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227-236, 2005]. He