Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.
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Role of the beta-subunit arginine/lysine finger in integrin heterodimer formation and function.Glanzmann's thrombasthenia: an overview.Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to GolgiDeep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia.Mapping the binding domains of the alpha(IIb) subunit. A study performed on the activated form of the platelet integrin alpha(IIb)beta(3).Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
P2860
Q34787978-B171603B-4E29-4F94-9F03-AC5F8D14E4DAQ34859954-8A0AC7DC-55E1-431F-A095-05042F453320Q35039053-0CCDDFD1-BF00-4133-BC6F-F725A1925C4CQ42238777-7109B442-6A6F-4C97-9419-6BC5CF17CD94Q44569954-97CC970B-6732-4E6C-8CC0-5EEC1633A4DDQ47689771-136E6DA2-BEE1-42C7-9E3C-29FF490EEE2CQ53393838-44B931AA-BFD8-4D03-BFBA-A1F9182CDECD
P2860
Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
Novel point mutations in the a ...... pes in four Japanese patients.
@en
Novel point mutations in the a ...... pes in four Japanese patients.
@nl
type
label
Novel point mutations in the a ...... pes in four Japanese patients.
@en
Novel point mutations in the a ...... pes in four Japanese patients.
@nl
prefLabel
Novel point mutations in the a ...... pes in four Japanese patients.
@en
Novel point mutations in the a ...... pes in four Japanese patients.
@nl
P2093
P2860
P1476
Novel point mutations in the a ...... pes in four Japanese patients.
@en
P2093
P2860
P304
P356
10.1046/J.1365-2141.1998.00824.X
P407
P577
1998-08-01T00:00:00Z