BTKbase: the mutation database for Xlinked agammaglobulinemia

J Väliaho, CIE Smith, M Vihinen - Human mutation, 2006 - Wiley Online Library
XLA-causing mutations are collected in a mutation database (BTKbase), which is
available at http://bioinf.uta.fi/BTKbase. For each patient the following information is given (when …

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

M Vihinen, O Brandau, LJ Brandén… - Nucleic acids …, 1998 - academic.oup.com
… Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations
has been compiled and the recent update lists 463 mutation entries from 406 unrelated …

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

M Vihinen, BH Belohradsky, RN Haire… - Nucleic acids …, 1997 - academic.oup.com
… ) is an immunodeficiency caused by mutations in the gene coding for Bruton's
agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been …

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

M Vihinen, T Iwata, C Kinnon, SP Kwan… - Nucleic acids …, 1996 - academic.oup.com
… ) is an immunodeficiency caused by mutations in the gene coding for Bruton's
agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been …

BTKbase, Bruton Tyrosine Kinase Variant Database in XLinked Agammaglobulinemia: Looking Back and Ahead

GCP Schaafsma, J Väliaho, Q Wang, A Berglöf… - … Mutation, 2023 - Wiley Online Library
BTKbase is an international database for disease-causing variants in Bruton … to X-linked
agammaglobulinemia (XLA), a rare primary immunodeficiency of antibody production. BTKbase

Xlinked agammaglobulinemia (XLA): a genetic tyrosine kinase (Btk) disease

PT Mattsson, M Vihinen, CIE Smith - Bioessays, 1996 - Wiley Online Library
… 150 unique mutations have been identified and are collected in a mutation database, BTKbase
Here we discuss the three-dimensional structural implications of such mutations and their …

Mutations of the human BTK gene coding for bruton tyrosine kinase in Xlinked agammaglobulinemia

M Vihinen, SP Kwan, T Lester, HD Ochs… - … mutation, 1999 - Wiley Online Library
agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations lists
544 mutationX-linked agammaglobulinemia (XLA) is a hereditary immunodeficiency caused …

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course

E Holinski-Feder, M Weiss, O Brandau, KB Jedele… - …, 1998 - publications.aap.org
… This is similar to the data reported to the XLA database, in which 55.4% of the mutations
have been … The number of recurrent mutations in the BTKbase now totals 50 (14%) of the …

B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia

O Toker, A Broides, A Lev, AJ Simon, O Megged… - Immunologic …, 2022 - Springer
… We finally made the diagnosis of XLA only after elucidating the X-linked inheritance in this
family, and realizing these two patients are related. This case exemplifies that the diagnosis of …

Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia

BK Saha, SK Curtis, LB Vogler, M Vihinen - Molecular Medicine, 1997 - Springer
… A database (BTKbase) for XLA mutations has been established recently by an international
study group that can be accessed freely on the Internet (13; and references therein). The …