About: Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia

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About: Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia Goto Sponge Distinct Permalink

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scientific article published on 01 January 1995

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 1995 (uk) im Jahr 1995 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 1995 (ast) artikull shkencor i botuar më 01 janar 1995 (sq) scientific article published on 01 January 1995 (en)
publication date	wds:Q71937465-D1FBB5C2-1799-4263-A316-5974A3587FDC
publication date	1995-01-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q71937465-16226373-3EBE-44C2-975C-934BF6BF4188 wds:Q71937465-2A4FB35F-0FF5-4784-B8EE-5F10888B0567 wds:Q71937465-5DDAF1F6-6B9F-4EFD-B79B-F78FE28B8BD3 wds:Q71937465-6F65BEF7-C74B-4C55-A542-8E2D24AAD030 wds:Q71937465-7A0A915A-CEAB-421F-92A2-1ADB49124948 wds:Q71937465-8A2AB55F-1F65-43AC-85AF-14A32322757F wds:Q71937465-9B9F5B56-14D8-475D-A09A-CB656FD1FE80 wds:Q71937465-9E4F1F4D-B9CF-44D9-9701-227FCCFC9505 wds:Q71937465-9FF6C5AD-CDBD-4E60-9AD1-4BC4965CA83D wds:Q71937465-A10FAB0B-41BB-443E-BC54-B6D81AE15E7B wds:Q71937465-A687FEF6-68CA-44CB-B068-853B74BBD6F6 wds:Q71937465-A943DDF0-30E2-4CF0-8A95-0E198BE3DF99 wds:Q71937465-B05ACB4F-A817-4FE2-807F-E4C620820123 wds:Q71937465-B08DDC25-856A-45AE-8A0A-1A63E569E3B6 wds:Q71937465-B130EF63-D0C5-4AD8-AE3F-EE277953F67D wds:Q71937465-B81AFC7B-FA8B-4326-83E8-B567FE0FDC50 wds:Q71937465-C0E64CA2-6929-45C3-90B8-A702156C906F wds:Q71937465-C35E4783-6806-4197-8F4D-51E88690F575 wds:Q71937465-CBC2B79B-41C5-406F-90B7-09313152C84D wds:Q71937465-CDB0C9AD-41BF-4E7B-9BCA-7A1170D899DB wds:Q71937465-E9407237-4648-4994-874D-C0A0C318F62E wds:Q71937465-F06E122B-7A5C-43D5-BA19-54058B821CED wds:Q71937465-FC5C019F-BF69-4AB7-8DAA-10BBB21D3436
cites work	The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases The protein kinase family: conserved features and deduced phylogeny of the catalytic domains Binding of a high affinity phosphotyrosyl peptide to the Src SH2 domain: crystal structures of the complexed and peptide-free forms Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia Recognition of a high-affinity phosphotyrosyl peptide by the Src homology-2 domain of p56lck The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences The Primary Immunodeficiencies SH2 and SH3 domains: elements that control interactions of cytoplasmic signaling proteins Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA) Carrier detection in typical and atypical X-linked agammaglobulinemia Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice. Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA) Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. X-linked agammaglobulinemia and other immunoglobulin deficiencies Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22.
author name string	wds:Q71937465-085547D7-200F-418C-B2F0-32085318ECF9 wds:Q71937465-5A2D62F6-7AFC-494F-A1C8-D21D362C9EF2 wds:Q71937465-F2E02BDD-96DA-4E38-BF5F-09072D49A3B2
author name string	Rosen FS Kwan SP Hagemann TL
rdfs:label	Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (en) Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (nl) Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (sq)
skos:prefLabel	Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (en) Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (nl) Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (sq)
name	Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (en) Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (nl) Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (sq)
title	wds:Q71937465-33AA8AB1-37E1-436D-B656-5229067AAD39
title	Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (en)
page(s)	wds:Q71937465-2CF7B987-558E-4C18-9C30-4D31F308E571
page(s)	296-302
instance of	wds:Q71937465-A4E4D12C-6D6C-4FC9-8558-19E2FA86824E
instance of	scholarly article
PubMed ID	wds:Q71937465-CA00077D-0344-4BCA-944E-A9CDC429898B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7627183
PubMed ID	7627183
published in	wds:Q71937465-C5E955DF-463C-471A-B345-9D7354842FF2
published in	Human Mutation
issue	wds:Q71937465-BD4A4504-4162-4F51-9698-AB42C4C7F727
volume	wds:Q71937465-57CC1A9E-3593-4C3D-8245-7481CD0205BD
issue	4
volume	5
DOI	wds:Q71937465-D7F0674E-14A3-44BE-8D37-33C935D665FD
DOI	http://dx.doi.org/10.1002/HUMU.1380050405
DOI	10.1002/HUMU.1380050405
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q71937465
is cites work of	Variation Ontology for annotation of variation effects and mechanisms BTKbase, mutation database for X-linked agammaglobulinemia (XLA). XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts Molecular basis for X-linked immunodeficiencies Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site. Novel deletion mutation in Bruton's tyrosine kinase results in X-linked agammaglobulinemia: A case report
is cites work of	wds:Q28659580-A0114614-D79E-495A-BE9C-AF08197DB14B wds:Q73827686-C8BEEB0E-DCD0-4260-822B-26109633884F wds:Q78442491-C56A8A1A-C82D-4481-B25A-DAD427630DF5 wds:Q30192775-7AD1A1AD-DF1E-412B-896A-8EEE79CD97EC wds:Q99583990-6677D013-ABC7-48F1-9C63-FB0A7F53649E

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