## X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase ) of BTK mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to
✦ LIBER ✦
X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase
✍ Scribed by Smith, C. I. Edvard ;B�ckesj�, Carl-Magnus ;Bergl�f, Anna ;Brand�n, Lars J. ;Islam, Tahmina ;Mattsson, Pekka T. ;Mohamed, Abdalla J. ;M�ller, Susanne ;Nore, Beston ;Vihinen, Mauno
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 970 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0344-4325
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Mutations of the human BTK gene coding f
✍
Mauno Vihinen; Sau-Ping Kwan; Tracy Lester; Hans D. Ochs; Igor Resnick; Jouni Vä
📂
Article
📅
1999
🏛
John Wiley and Sons
🌐
English
⚖ 237 KB
👁 2 views
BTK mutations in patients with X-linked
✍
Luan Tao; Mark Boyd; Greg Gonye; Barbara Malone; Jerrold Schwaber
📂
Article
📅
2000
🏛
John Wiley and Sons
🌐
English
⚖ 45 KB
👁 2 views
Identification of the bruton tyrosine ki
✍
Marija Velickovic; Madhuri L. Prasad; Susan A. Weston; Elizabeth M. Benson
📂
Article
📅
2004
🏛
John Wiley and Sons
🌐
English
⚖ 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