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The spectrum of mutations in Btk that cause X-linked agammaglobulinemia

✍ Scribed by Mary Ellen Conley; Jurg Rohrer


Book ID
114100622
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
730 KB
Volume
76
Category
Article
ISSN
1090-2341

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## 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