About: Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients

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About: Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients Goto Sponge NotDistinct Permalink

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scientific article published on 24 May 2003

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в травні 2003 (uk) im Mai 2003 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en mayu de 2003 (ast) scientific article published on 24 May 2003 (en)
publication date	wds:Q73439581-5675DDDB-9090-4A25-B8C7-469AE68495A7
publication date	2003-05-24 00:00:00Z (xsd:dateTime)
exact match	wds:Q73439581-30831D10-B06C-4B32-830D-470ADE412044
exact match	https://scigraph.springernature.com/pub.10.1007/s10038-003-0032-4
cites work	wds:Q73439581-08D9F5C5-2803-49A8-8CAE-1E510279436D wds:Q73439581-34A2483F-A83D-462D-A42E-A48797D229D0 wds:Q73439581-3648A70C-F8FC-4054-AC4C-A626AD9B37DD wds:Q73439581-3A414C6E-EADB-430A-8E69-28D0D840448F wds:Q73439581-54E7A012-1DB1-4116-8D9D-4E591DE4F8F7 wds:Q73439581-60507D5A-ED49-4FCF-A833-32B321627C11 wds:Q73439581-6B1F4989-D76F-4537-ABD3-C2607CB71D02 wds:Q73439581-77FF6A04-43D4-4363-AE12-2B24EB2CCDEF wds:Q73439581-7C6575F5-9126-43ED-95B2-216E54F5A165 wds:Q73439581-895331A1-A3DC-430F-A250-254826BA18D3 wds:Q73439581-991B30CD-63A8-4CCA-8B1E-9EB02355326B wds:Q73439581-9B61BCFA-E831-4BCC-B1DC-6365375E85DE wds:Q73439581-A18C7B78-AD04-430C-942A-8F30EBADD595 wds:Q73439581-AFDC0EAE-204A-4B55-80CD-BE790CC3CBF6 wds:Q73439581-B65CFCE4-27EC-46C7-969D-18355AF5E2ED wds:Q73439581-B8C24B1E-034E-46CB-92EC-19469CEDA4B5 wds:Q73439581-BEA1F133-839E-4501-8BE6-109AF798BFF1 wds:Q73439581-BEF8D2BB-D8DD-480C-9300-9E9997CA0AC3 wds:Q73439581-D91983C5-BB97-4673-B1DD-01C099C86C7E wds:Q73439581-DE70A7EF-1740-4DAE-BA8F-466A99D49F07 wds:Q73439581-E771025E-BC64-4A53-B001-6610726D01FE
cites work	Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia Alu repeats and human disease Base sequence studies of 300 nucleotide renatured repeated human DNA clones. A case of X-linked agammaglobulinemia diagnosed in adulthood Molecular approaches to analysis of X-linked immunodeficiencies Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions. A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male. Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Discordant phenotype in siblings with X-linked agammaglobulinemia Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia. Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation Expression of the gene defect in X-linked agammaglobulinemia DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan Missense mutations affecting a conserved cysteine pair in the TH domain of Btk. Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci. Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families.
author name string	wds:Q73439581-0D9C81F1-1D25-4C6B-A3CA-A6AAD1CB76D6 wds:Q73439581-23EF4B0B-4A84-40CA-9890-27D0EF4AA8DC wds:Q73439581-4C34B821-D0BD-41E7-A42E-5673A78CFF33 wds:Q73439581-51F1F23A-51D0-487A-AF5D-E17FED977467 wds:Q73439581-577558EA-69D9-4155-8972-11D4EE69CC6C wds:Q73439581-6A860FFD-3760-48E0-B8CC-9941FFFCE53F wds:Q73439581-6FFE8AF1-D350-4519-BDE8-3BF659962C41 wds:Q73439581-8A78778D-A242-48A4-A550-6E4CBD6D273B wds:Q73439581-910A95E1-431E-4A85-B32C-79FD0C7A0DB5 wds:Q73439581-997FBACC-47F0-4BCF-87DA-36BC9250E652 wds:Q73439581-E79D2D9A-D63F-4632-BAEB-5DF93B989105 wds:Q73439581-EE227A8A-94E4-441D-830B-3DCCB5E35D21 wds:Q73439581-F298D074-5CF0-4BC9-8218-CE0667FFBAA5
author name string	Yue Wang Sang-Il Lee Eun-Kyeong Jo Dong Soo Kim Jung Soo Kim Jae-Ho Lee Kang-Mo Ahn Hyeon Jin Park Chang-Hwa Song Toshio Miyawaki Jeong-Kyu Park Takeshi Futatani Youn Soo Hahn
rdfs:label	Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients (en) Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients (nl)
skos:prefLabel	Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients (en) Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients (nl)
name	Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients (en) Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients (nl)
author	wds:Q73439581-42E69A93-E525-4945-BBF5-E0CB816AEA84
author	Hirokazu Kanegane
title	wds:Q73439581-82FE6B8B-AC4E-46A3-91A4-1848DDD76063
title	Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients (en)
page(s)	wds:Q73439581-96961CC6-EE7E-4C55-B4F1-210D6B390091
page(s)	322-326
instance of	wds:Q73439581-9C4609D6-ACED-407F-894D-6B7088C2E458
instance of	scholarly article
PubMed ID	wds:Q73439581-AD55B5E1-35BD-40AD-A71F-9548E7B8CB4C
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/12768435
PubMed ID	12768435
published in	wds:Q73439581-22D9D596-2F45-40E6-8EB1-26D3EAA31834
published in	Journal of Human Genetics
issue	wds:Q73439581-BEF1DBFD-BB9B-45EA-90E9-EC815F8EC502
volume	wds:Q73439581-40299FAE-0342-45B8-869D-A6E619792777
issue	6

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