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Literature DB >> 7576047

BTKbase: a database of XLA-causing mutations. International Study Group.

M Vihinen¹, M D Cooper, G de Saint Basile, A Fischer, R A Good, R W Hendriks, C Kinnon, S P Kwan, G W Litman, L D Notarangelo.

Abstract

Entities: Gene

Mesh：

Substances：

Year: 1995 PMID： 7576047 DOI： 10.1016/0167-5699(95)80027-1

Source DB: PubMed Journal: Immunol Today ISSN： 0167-5699

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19 in total

1. Human Variome Project Quality Assessment Criteria for Variation Databases.

Authors: Mauno Vihinen; John M Hancock; Donna R Maglott; Melissa J Landrum; Gerard C P Schaafsma; Peter Taschner
Journal: Hum Mutat Date: 2016-03-21 Impact factor: 4.878

2. Identification of the binding site for Gqalpha on its effector Bruton's tyrosine kinase.

Authors: Y C Ma; X Y Huang
Journal: Proc Natl Acad Sci U S A Date: 1998-10-13 Impact factor: 11.205

3. Discordant phenotype in siblings with X-linked agammaglobulinemia.

Authors: M J Bykowsky; R N Haire; Y Ohta; H Tang; S S Sung; E S Veksler; J M Greene; S M Fu; G W Litman; K E Sullivan
Journal: Am J Hum Genet Date: 1996-03 Impact factor: 11.025

Review 4. X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase.

Authors: C I Smith; C M Bäckesjö; A Berglöf; L J Brandén; T Islam; P T Mattsson; A J Mohamed; S Müller; B Nore; M Vihinen
Journal: Springer Semin Immunopathol Date: 1998

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

Authors: M Vihinen; B H Belohradsky; R N Haire; E Holinski-Feder; S P Kwan; I Lappalainen; H Lehväslaiho; T Lester; A Meindl; H D Ochs; J Ollila; I Vorechovsky; M Weiss; C I Smith
Journal: Nucleic Acids Res Date: 1997-01-01 Impact factor: 16.971

6. Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site.

Authors: R N Haire; Y Ohta; S J Strong; R T Litman; Y Liu; J T Prchal; M D Cooper; G W Litman
Journal: Am J Hum Genet Date: 1997-04 Impact factor: 11.025

7. Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.

Authors: R A Brooimans; A J van den Berg; G T Rijkers; L A Sanders; J K van Amstel; M G Tilanus; M J Grubben; B J Zegers
Journal: J Med Genet Date: 1997-06 Impact factor: 6.318